Record no | GENE NAME | SNP ID | CHANGES | ANCESTRAL ALLELES | FUNCTIONAL CONSEQUENCES | DISEASE | POPULATION | Pubmed ID | Comments |
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1 | IL13 | rs1881457 | A/C | A | 5' Upstream variant | Asthma | - | 27050946 | rs1881457 in IL13 was correlated with the expression levels of IL13 and the expression levels of IL13 was correlated with asthma in BAL and thus, IL13 is more likely to be the functional asthma gene in the region. |
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2 | IL13 | rs20541 | C/T | C | Coding region | Asthma | - | 27050946 | rs20541 is associated with asthma. |
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3 | IL17A | rs2275913 | A/G | A | 2KB Upstream Variant | Asthma | Asians | 30393475 | The G allele of rs2275913 in IL-17A was significantly associated with a reduced risk of asthma in children and Asians. The G allele of rs2275913 in IL-17A is a protective factor for the development of asthma. |
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4 | IL6R | rs2228145 | A/C/T | A | Missense Variant | Asthma | UK Biobank population | 28334838 | An increased risk of atopic asthma compared to non-atopic asthma per copy of the minor allele of rs2228145. There was a positive association between the Asp358Ala variant and atopic asthma. Enhanced shedding of sIL-6R from neutrophils of Asp358Ala homozygotes and an increase in the MCP1 release from lung endothelial cells provides evidence of a mechanism through which IL-6 trans-signaling may contribute to disease severity in severe, neutrophil-driven, asthma phenotypes. |
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5 | IL33 | rs928413 | A/C/G | A | 2KB Upstream Variant | Asthma | - | 30257479 | The Risk G Allele of the Single-Nucleotide Polymorphism rs928413 Creates a CREB1-Binding Site That Activates IL33 Promoter in Lung Epithelial Cells. This mechanism may explain the negative effect of the rs928413 minor “G” allele on asthma development. |
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6 | IL33 | rs928413 | A/C/G | A | 2KB Upstream Variant | Asthma | French Canadian population | 30468398 | Carriers of a mutative allele in a haplotype within the promoter of IL33 had a lower IL33 DNA-methylation level. This haplotype (formed by chr9:6210100, rs928413 and rs7848215 variants) may interact with DNA-methylation at the promoter of IL33 and together modulate the asthma risk. |
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7 | IL33 | rs7848215 | A/C/G/T | T | 2KB Upstream Variant | Asthma | French Canadian population | 30468398 | Carriers of a mutative allele in a haplotype within the promoter of IL33 had a lower IL33 DNA-methylation level. This haplotype (formed by chr9:6210100, rs928413 and rs7848215 variants) may interact with DNA-methylation at the promoter of IL33 and together modulate the asthma risk. |
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8 | IL33 | chr9:6210100 | - | - | Promoter Region | Asthma | French Canadian population | 30468398 | Carriers of a mutative allele in a haplotype within the promoter of IL33 had a lower IL33 DNA-methylation level. This haplotype (formed by chr9:6210100, rs928413 and rs7848215 variants) may interact with DNA-methylation at the promoter of IL33 and together modulate the asthma risk. |
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9 | IL1RL1 | rs10197862 | A/G | A | Intron Variant | Childhood Asthma | Non-Hispanic white (NHW) population, African American (AA) population | 30373671 | The variant (rs10197862) showed association with childhood asthma in NHWs and AAs. |
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10 | IL13 | rs1295686 | A/G/T | A | Intron Variant | Childhood Asthma | Non-Hispanic white (NHW) population, African American (AA) population | 30373671 | The variant (rs1295686) showed association with childhood asthma in NHWs and AAs. |
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11 | IL1RL1 | rs4988958 | C/T | T | Synonymous Variant | Childhood Asthma | Non-Hispanic white (NHW) population, African American (AA) population | 30373671 | The variant (rs4988958) showed association with childhood asthma in NHWs and AAs. |
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12 | IL13 | rs20541 | G/A | G | Missense Variant | Asthma | Saudi Arabian population | 29211635 | IL13 minor A allele for rs20541 was associated with significantly higher risk of asthma in the Saudi Arabian population. |
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13 | IL13 | rs1295686 | A/G/T | A | Intron variant | Asthma | Saudi Arabian population | 29211635 | IL13 minor T allele for rs1295686 was associated with significantly higher risk of asthma in the Saudi Arabian population. |
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14 | IL17A | rs8193036 | C/T | T | 2KB Upstream Variant | Childhood Asthma | - | 27974119 | Polymorphisms at position -692C/T in IL-17A gene promoter is associated with the susceptibility to childhood asthma. Asthma group had significantly higher frequencies of TT genotype. Children with -692T allele are more susceptible to childhood asthma. |
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15 | IL10 | rs1800896 | A/G | A | 2KB Upstream Variant | Pediatric Asthma | Asian population, Non Asian population | 27323141 | IL10 -1082G/A polymorphism might be a risk factor for asthma in children. A significant association between this polymorphism in Asian populations and pediatric asthma in a dominant model and non-Asian populations and pediatric asthma in a recessive model. -1082G/A polymorphism was significantly associated with non-atopic asthma in children in the additive and allelic models and with atopic asthma in children in the recessive model. |
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16 | IL13 | rs20541 | C/T | C | Coding region | Childhood Asthma | Chinese Han population | 26613553 | Individuals homozygous for the risk alleles (GG) for rs20541 are at a higher risk for developing asthma compared with those without any risk homozygotes. IL13 rs20541 (G allele), IL4 rs2243250 (T allele), ADRB2 rs1042713 (A allele), and FCER1B rs569108 (G allele), four SNPs with significant sole effect on asthma, interact to confer a higher risk for the disease in Chinese Han children. |
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17 | IL4 | rs2243250 | C/T | C | 2KB Upstream Variant | Childhood Asthma | Chinese Han population | 26613553 | Individuals homozygous for the risk alleles (TT) for rs2243250 are at a higher risk for developing asthma compared with those without any risk homozygotes. IL13 rs20541 (G allele), IL4 rs2243250 (T allele), ADRB2 rs1042713 (A allele), and FCER1B rs569108 (G allele), four SNPs with significant sole effect on asthma, interact to confer a higher risk for the disease in Chinese Han children. |
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18 | IL13 | rs1295686 | A/G/T | A | Intron Variant | Asthma | Chinese population | 26534891 | IL13 rs1295686 was associated with all asthma and early-onset asthma in adults. Moreover, SLC22A5, IL13, SMAD3, and GSDMB interact to modulate spirometric indices. |
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19 | IL13 | rs20541 | C/T | C | Coding region | Pediatric Asthma | Polish population | 26426602 | Significant correlation was found between rs20541 in IL13 gene and the positive skin prick test results. |
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20 | IL4R | rs1805011 | A/C/G/T | A | Missense Variant | Pediatric Asthma, Atopic Dermatitis | Polish population | 26426602 | rs1805011 polymorphism of IL4Rα gene seems to influence allergy risk, especially mild asthma and atopic dermatitis predisposition in Polish children. |
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21 | IL4 | rs2227284 | A/C/G | A | Intron Variant | Pediatric Asthma | Polish population | 26426602 | rs2227284 was associated with total IgE levels. |
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22 | IL4 | rs2243250 | C/T | C | 2KB Upstream Variant | Pediatric Asthma, Clinical Atopy | Polish population | 26426602 | rs2243250 polymorphism was associated with clinical atopy. |
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23 | IL17A | rs2275913 | A/G | A | 2KB Upstream Variant | Allergic Asthma | Finnish population | 28647382 | The variant genotype of IL17A rs2275913 polymorphism GA or AA was a significant protective factor for asthma in school children from the age 7 to 13 years. |
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24 | IL1R1 | rs949963 | A/G | G | Intron Variant | Childhood Asthma | Chinese population | 26975823 | The GG genotype and alleles of IL1R1 SNP rs949963 is associated with the susceptibility to asthma in children from Central China and may increase the serum expression of IL1R1. |
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25 | IL17A | rs8193036 | C/T | T | 2KB Upstream Variant | Asthma | Asian population | 27007832 | The IL17A -737C/T polymorphism was found to have a significantly protective effect on asthma in the allele model, dominant model and heterozygous model in the overall analysis. Stratified by ethnicity and age, the effects were also significant in the Asian population and in children. |
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26 | IL1RL1 | rs3771180 | A/C/T | C | Intron Variant | Childhood Asthma, Hay fever | Swedish population | 26786172 | rs3771180 in IL1RL1 is associated with childhood asthma and hay fever. |
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27 | IKZF3 | rs9303277 | C/T | T | Intron Variant | Asthma | American Indian population | 28668238 | One SNP at 17q21 (rs9303277) was associated with case control status considering the major allele in a dominant model. This SNP was associated with asthma. |
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28 | IL5RA | rs71058675 | -/T | T | - | Childhood Asthma | Puerto Rican children | 28574721 | rs71058675 in IL5RA was associated with asthma, intermediate phenotypes, gene expression and cytokine levels. |
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29 | IL5RA | rs1153462 | A/G/T | G | - | Childhood Asthma | Puerto Rican children | 28574721 | rs1153462 in IL5RA was associated with asthma and intermediate phenotypes. |
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30 | IL5RA | rs6773701 | A/C | A | 2KB Upstream Variant | Childhood Asthma | Puerto Rican children | 28574721 | IL5RA SNP rs6773701 was associated with eosinophil counts. |
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31 | IL4R | rs1801275 | A/G | G | Missense Variant | Asthma | - | 28943468 | High endotoxin exposure in the presence of the Q/Q genotype for IL4R Q576R was associated with a protective effect against asthma symptoms. IL4R Q versus R variants influence the outcome of endotoxin exposure on asthma. |
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32 | IL8 | rs4073 | A/T | A | 2KB Upstream Variant | Childhood Asthma | Tunisian population | 28993876 | rs4073 was significantly associated with an increased risk of asthma. The rs4073 T allele was a risk factor for asthma development. The rs4073 T allele is represented as a risk factor for asthma severity in Tunisian children. |
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33 | IL8 | rs2227306 | C/T | C | Intron Variant | Childhood Asthma | Tunisian population | 28993876 | rs2227306 was significantly associated with an increased risk of asthma. The rs2227306 C allele was a risk factor for asthma development. |
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34 | IL6 | rs1800797 | A/G | G | Intron Variant | Asthma | Finnish population | 28987812 | The GG genotype of rs1800797 is associated with increased risk of asthma among those who had some tobacco smoke exposure. This GG genotype may increase susceptibility to the adverse effects of smoking on the risk of asthma. |
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35 | IL6 | rs1800795 | C/G | G | Intron Variant | Asthma | Finnish population | 28987812 | The GG genotype of rs1800795 is associated with increased risk of asthma among those who had some tobacco smoke exposure. This GG genotype may increase susceptibility to the adverse effects of smoking on the risk of asthma. |
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36 | IFNG4 | rs368234815 | - | - | - | Asthma | Polish population | 28874741 | IFNG4 generating ΔG allele protected a subpopulation of asthmatic patients, specifically older women, from allergic sensitization. |
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37 | IL1A | rs17561 | C/A | C | Missense Variant | Paediatric Asthma | Brazilian population | 29154202 | Gain-of-function IL1A rs17561 resulted significantly associated with a reduced pulmonary capacity in asthmatic children. |
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38 | IL18 | rs5744256 | G/A | A | Intron Variant | Paediatric Asthma | Brazilian population | 29154202 | IL18 rs5744256 which lead to lower serum level of IL-18 appeared to be associated to a worse response to bronchodilators. |
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39 | IL1RL1 | rs17026974 | A/G | A | Intron Variant | Asthma | Japanese population | 29153414 | Patients with minor allele in rs17026974 had high FeNO, blood eosinophil differentials and reversibility of FEV1, but low levels of serum sST2 and FEV1. Minor allele of rs17026974 was associated with high blood eosinophil differentials and FeNO, respectively. |
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40 | IL1RL1 | rs1420101 | T/C | T | Non Coding Transcript Variant | Asthma | Japanese population | 29153414 | Patients with minor allele in rs1420101 had high FeNO, blood eosinophil differentials and reversibility of FEV1, but low levels of serum sST2 and FEV1. The minor allele of rs1420101 additively contributed to the FeNO, blood eosinophil differentials and reversibility of FEV1. |
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41 | IL1RL1 | rs1921622 | A/G | G | Intron Variant | Asthma | Japanese population | 29153414 | Patients with minor allele in rs1921622 had high FeNO, blood eosinophil differentials and reversibility of FEV1, but low levels of serum sST2 and FEV1. Minor allele of rs1921622 was associated with high blood eosinophil differentials and FeNO, respectively. |
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42 | IL33 | rs146597587 | C/G | G | Splice Acceptor Variant | Asthma | Icelandic population | 28273074 | rs146597587-C is a loss of function mutation that reduces blood eosinophil counts and protects from Asthma. |
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43 | IL33 | rs12551256 | A/G | A | Intron Variant | Asthma, Atopy | Brazilian population | 28266165 | The G allele of IL33 SNP rs12551256 was negatively associated with asthma. |
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44 | IL1RL1 | rs1041973 | A/C | A | Missense Variant | Asthma, Atopy | Brazilian population | 28266165 | The A allele of IL1RL1 rs1041973 was positively associated with IL5 production, sIgE levels and positive SPT for Blomia tropicalis mite. The same allele, in atopic subjects, was associated with decreased production of soluble ST2 (sST2). |
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45 | IL1RL1 | rs873022 | G/T | G | Intron Variant | Asthma, Atopy | Brazilian population | 28266165 | The T allele of rs873022 was associated with a lower production of sST2 in plasma of Brazilians |
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46 | IL33 | rs16924161 | C/T | T | Intron Variant | Asthma, Atopy | Brazilian population | 28266165 | rs16924161 demonstrated a higher risk for SPT positivity against Blomia tropicalis. |
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47 | IL13 | rs20541 | G/A | G | Missense Variant | Asthma | Asian population | 29390465 | The IL13 +2044G/A polymorphism is a risk factor for asthma, especially among Asians. |
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48 | IL13 | rs1295686 | C/T | T | Intron Variant | Asthma | Asian population | 29390465 | The IL13 +1923C/T polymorphism is a risk factor for asthma, especially among Asians. |
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49 | IRAKM | rs1624395 | A/G | G | Intron Variant | Adult onset Asthma | Chinese Han population | 30617222 | rs1624395 was significantly associated with adult-onset asthma. rs1624395 influenced the mRNA expression of the IRAK-M transcript variant 1 in peripheral monocytes from asthma patients. |
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50 | IRAKM | rs1370128 | A/C/T | T | Intron Variant | Adult onset Asthma | Chinese Han population | 30617222 | rs1370128 was significantly associated with adult-onset asthma. |
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51 | IL1B | rs1143634 | C/T (REV) | C | Synonymous Variant | Pediatric Asthma | Polish population (Caucasian origin) | 29034996 | IL1B polymorphisms rs1143634 was associated with allergic asthma risk. |
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52 | IL1B | rs1143633 | A/C/G (REV) | G | Intron Variant | Pediatric Asthma | Polish population (Caucasian origin) | 29034996 | IL1B polymorphisms rs1143633 was associated with allergic asthma risk. |
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53 | IL1B | rs1143643 | A/G (REV) | G | Intron Variant | Pediatric Asthma | Polish population (Caucasian origin) | 29034996 | IL1B polymorphisms rs1143643 was associated with allergic asthma risk. |
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54 | IL33 | rs1342326 | G/T (REV) | T | - | Childhood Asthma | Tunisian population | 28985997 | The CC and AC genotypes as well as the C allele were associated significantly with a decreased asthma risk. The C allele was more frequent in severe asthma patients than in milder ones. Increased serum IL33 was associated with the presence of rs1342326 C allele. The IL33 rs1342326 polymorphism was associated with a lower childhood asthma risk in the Tunisian population and a higher IL33 protein expression. |
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55 | IL1RL1 | rs10208293 | A/G | A | Intron Variant | Asthma | European Ancestry | 27130862 | rs10208293 in 2q12 loci was found to be associated with time to asthma onse (TAO) at genome-wide significance levels. |
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56 | IL33 | rs928413 | A/C/G | A | 2KB Upstream Variant | Asthma | European Ancestry | 27130862 | rs928413 in 9p24 loci was found to be associated with time to asthma onse (TAO) at genome-wide significance levels. |
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57 | IL4R | rs1805013 | C/T | C | Missense Variant | Asthma | European Ancestry | 27130862 | rs1805013 in 16p12-p11 loci was associated with time to asthma onse (TAO) at suggestive significance levels. |
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58 | IL33 | rs413382 | A/C | C | - | Asthma | European Ancestry | 27130862 | Secondary signals were associated with time to asthma onset (TAO) after stepwise conditional analysis in rs413382 in 9p24 region. |
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59 | IRF1 | rs10035166 | A/C/T | T | Intron Variant | Childhood Allergic Asthma | | 29047170 | Carrying the risk allele of IRF1 in rs10035166 was associated with increased risk for Allergic Asthma. NOD2 expression was decreased in Atopic Asthmatics with risk alleles in rs10035166 and with risk-haplotype. |
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60 | IRF1 | rs2706384 | G/T | G | 2KB Upstream Variant | Childhood Allergic Asthma | | 29047170 | Carrying the risk allele of IRF1 in rs2706384 was associated with increased risk for Allergic Asthma. NOD2 expression was decreased in Atopic Asthmatics with risk alleles in rs2706384 and with risk-haplotype. |
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61 | IRF1 | rs2070721 | A/C (REV) | C | Intron Variant | Childhood Allergic Asthma | | 29047170 | Carrying the risk allele of IRF1 in rs2070721 was associated with increased risk for Allergic Asthma. |
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62 | IRF1 | rs17622656 | A/G/T | G | Intron Variant | Childhood Allergic Asthma | | 29047170 | Carrying the non risk allele in rs17622656 was associated with lower risk for allergic asthma, but not non allergic asthma. |
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63 | IL1R1 | rs3732131 | C/T (REV) | T | 3 Prime UTR Variant | Asthma | European population | 27334786 | The IL1R1 rs3732131 SNP was associated with asthma in both studies with a significant association after statistical correction in the EGEA study. |
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64 | IL1R1 | rs10208708 | C/G/T | G | Intron Variant | Atopy | European population | 27334786 | The interaction between IL1R1*rs10208708 and IL1RAP*rs2241343 was associated with atopy. |
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65 | IL1RAP | rs2241343 | C/G/T | G | Intron Variant | Atopy | European population | 27334786 | The interaction between IL1R1*rs10208708 and IL1RAP*rs2241343 was associated with atopy. |
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66 | IL1RAP | rs997534 | A/G (REV) | A | Intron Variant | Asthma | European population | 27334786 | The interaction between BACE1*rs551662 and IL1RAP*rs997534 was associated with asthma. |
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67 | IL1RAP | rs3773976 | A/C/T (REV) | A | Intron Variant | Asthma | European population | 27334786 | The interaction between BACE1*rs676134 and IL1RAP*rs3773976 was associated with allergic asthma. |
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68 | IL33 | rs2381413 | C/G/T | C | - | Asthma | African American population | 27177148 | rs2381413 located upstream of IL33 was significantly associated with asthma. |
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69 | IL33 | rs7037276 | C/G/T | T | Intron Variant | Moderate-To-Severe Asthma Exacerbations (In Children) | Caucasian population | 30644648 | rs7037276 in IL33 was significantly associated with decreased odds of Emergency department management failure in case of moderate to severe ssthma exacerbations in children. |
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70 | IL33 | rs1342326 | G/T (REV) | T | - | Moderate-To-Severe Asthma Exacerbations (In Children) | Caucasian population | 30644648 | rs1342326 in IL33 was significantly associated with decreased odds of Emergency department management failure in case of moderate to severe ssthma exacerbations in children. |
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71 | IL17A | rs3748067 | A/G (REV) | G | 3 Prime UTR Variant | Asthma | Chinese Han population | 30036556 | The frequencies of A allele, GA and (GA + AA) genotype of rs3748067 were significantly higher in asthma patients. The level of serum total IgE in mutant group (GA + AA) of rs3748067 was significantly higher than the wild genotype (GG) group and control group. |
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72 | IL17F | rs763780 | C/T | T | Missense Variant | Asthma | Chinese Han population | 30036556 | As for rs763780, the C allele in patients was more frequent than healthy controls. C carriers (CT + CC) were significantly higher in asthma patients. |
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73 | IL6 | rs1800795 | C/G | G | Intron Variant | Occupational Bronchial Asthma | - | 30351648 | Polymorphism of C174G gene of interleukin-6 (IL6) are associated with higher activity of inflammation and therefore with increased risk of occupational bronchial asthma associated with metabolic syndrome and diabetess mellitus 2 type. |
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74 | IL4R | rs1801275 | A/G | G | Missense Variant | Asthma, Rhino Conjunctivitis | Sicilian children | 30646946 | Current Asthma was modestly associated with rs1801275. |
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75 | IL17 | rs7741835 | C/T | T | - | Asthma, Rhino Conjunctivitis | Sicilian children | 30646946 | Rhino Conjunctivitis was modestly associated with rs7741835. rs7741835 showed high frequencies of heterozygote genotypes in Rhino Conjunctivitis patients as compared with control subjects, which are frequently homozygous. |
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76 | IL13 | rs20541 | C/T (REV) | C | Missense Variant | Bronchial Asthma | Japanese population | 26765219 | IL13 AA of rs20541 is a potential genomic biomarkers for predicting lower pulmonary function. The administration of high-dose ICSs to asthmatic patients with genetic variants of IL13 AA may inhibit the advancement of airway remodelling. |
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77 | IL6R | rs2228145 | A/C/T | A | Missense Variant | Asthma | Chinese population | 26997259 | rs2228145 C is associated with poor lung function in patients with asthma. The rs2228145 A-C variant is associated with levels of sIL-6R and IgE. |
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78 | IL6R | rs12083537 | A/G | G | Intron Variant | Asthma | Chinese population | 26997259 | rs12083537 G is associated with poor lung function in patients with asthma. |
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79 | IL10 | rs1800871 | C/T (REV) | C | 2KB Upstream Variant | Allergy | Finnish population, European population | 27228545 | IL10 polymorphism at rs1800871 seem to be associated with elevated allergies and/or recurrent wheezing risk in later childhood, after early-life bronchiolitis. |
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80 | IL10 | rs1800872 | A/C (REV) | C | 2KB Upstream Variant | Allergy | Finnish population, European population | 27228545 | IL10 polymorphism at rs1800872 seem to be associated with elevated allergies and/or recurrent wheezing risk in later childhood, after early-life bronchiolitis. |
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81 | IL10 | rs1800890 | A/T (REV) | T | Intron Variant | Allergy | Finnish population, European population | 27228545 | IL10 polymorphism at rs1800890 seem to be associated with elevated allergies and/or recurrent wheezing risk in later childhood, after early-life bronchiolitis. |
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82 | IL10 | rs1800896 | A/G (REV) | A | 2KB Upstream Variant | Allergy | Finnish population, European population | 27228545 | IL10 polymorphism at rs1800896 seem to be associated with elevated allergies and/or recurrent wheezing risk in later childhood, after early-life bronchiolitis. |
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83 | IL6 | rs1800795 | C/G | G | Intron Variant | Childhood Bronchial Asthma | Spanish population | 28185773 | A significant association was noted between IL6 polymorphism at -174G/C (rs1800795) and bronchial asthma. Higher associations between polymorphism at IL-6 -174G/C and bronchial asthma were observed in atopic patients. |
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84 | IL1RAPL1 | rs12007907 | A/C | A | Intron Variant | Childhood Asthma | Latin American population | 28120837 | The rs12007907 variant in IL1RAPL gene was negatively associated with asthma and IL13 production. |
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85 | IL4R | rs3024608 | C/G | C | Intron Variant | Asthma | Chinese population | 28123702 | The SNP of rs3024608 is associated with asthma and the positive palm pattern. |
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86 | IL4R | rs1805012 | C/T | T | Missense Variant | Asthma | Chinese population | 28123702 | rs1805012 was associated with asthma. |
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87 | IL4R | rs1805010 | A/C/G/T | G | Missense Variant | Allergy (Positive Palm Pattern) | Chinese population | 28123702 | rs1805010 was associated with the positive palm pattern |
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88 | IL13 | rs20541 | C/T (REV) | C | Missense Variant | Asthma (with Allergic Rhinitis, Allergic Conjunctivitis) | Finnish population | 28273659 | Adult Allergic Rhinitis/Allergic Conjunctivitis asthma could putatively be a phenotype, characterized by the presence of atopic and/or eosinophilic factors and a high prevalence of the IL13 rs20541 A allele. |
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89 | IL4 | rs2243250 | C/T | C | 2KB Upstream Variant | Asthma | Iraqi population | 28386156 | The increasing risk of asthma was associated with C allele and the CC genotype of IL4 -590C>T. |
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90 | IL12A | rs568408 | A/G | G | 3 Prime UTR Variant | Asthma | Taiwanese population | 28600552 | IL12A rs568408 may contribute to the etiology and symptoms severity of asthma, indicating its usefulness as a predictive and diagnostic biomarker of asthma. |
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91 | IL7 | rs766736182 | C/T | - | Missense Variant | Childhood Asthma | Chinese Han population | 30239047 | SNP rs766736182 of interleukin-7 is the risk factor for children asthma. |
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92 | IL13 | rs20541 | C/T | C | Coding region | Asthma | Portuguese population | 27561723 | IL13 rs20541 GG genotype was associated with less susceptibility to asthma. |
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93 | IL17A | rs2275913 | A/G | A | 2KB Upstream Variant | Asthma, Allergic Rhinitis | Portuguese population | 27561723 | Among patients, IL17A rs2275913 AA genotype was less associated with asthma than with rhinitis. |
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94 | IL4 | rs2243250 | C/T | C | 2KB Upstream Variant | Childhood Asthma | Xinjiang Uighur population | 27525870 | The IL4 -590C>T polymorphism is related to bronchial asthma in Uighur children and the T allele may constitute a susceptibility factor in this group. |
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95 | IL4R | rs1801275 | A/G | G | Missense Variant | Childhood Asthma | Han Chinese population | 27819719 | The IL-4R rs1801275 (576 Q/R) polymorphism is associated with childhood asthma and the RR genotype confers a high risk of developing this condition. |
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96 | IL13 | rs20541 | C/T | C | Coding region | Asthma, Atopy | Chinese Han population | 29761786 | IL13 rs20541 was associated with the Asthma Predictive Index (API) and atopy. |
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97 | IL4 | rs2243250 | C/T | C | 2KB Upstream Variant | Asthma, Atopy | Chinese Han population | 29761786 | IL4 rs2243250 was associated with the Asthma Predictive Index (API) and atopy. |
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98 | IL6 | rs1800797 | A/G | G | Intron Variant | Asthma | Finnish population | 26938664 | IL6 SNP rs1800797 is associated with the risk of adult-onset asthma. |
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99 | IL17 | rs763780 | C/T | T | Missense Variant | Asthma | Asian population | 26954344 | IL17 SNP rs763780 may be associated with asthma susceptibility in Asians. |
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100 | IL17 | rs2275913 | A/G | A | 2KB Upstream Variant | Asthma | Asian population | 26954344 | IL17 rs2275913 SNP may be associated with asthma susceptibility and GA genotype in rs2275913 may contribute to increased risk of asthma in Asians. |
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101 | IL17 | rs8193036 | C/T | T | 2KB Upstream Variant | Asthma | Asian population | 26954344 | IL17 rs8193036 SNP may be associated with asthma susceptibility and TT genotype in rs8193036 of IL17 may contribute to increased risk of asthma in Asians. |
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102 | IL10 | rs1800871 | C/T (REV) | C | 2KB Upstream Variant | Atopic Dermatitis | Caucasian population | 30932690 | The IL-10-819G/A polymorphism seems to be associated with increased risk of Atopic Dermatitis among Caucasian populations. |
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103 | IL10 | rs1800896 | A/G | A | 2KB Upstream Variant | Atopic Dermatitis | Asian population | 30932690 | The IL10-1082G/A polymorphism (rs1800896) seems to be correlated with Atopic Dermatitis among Asian populations. |
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104 | IL4 | rs2243250 | C/T | C | 2KB Upstream Variant | Childhood Bronchial Asthma | Uygur population | 30680016 | The IL4 -590C/T (rs2243250) gene polymorphism is associated with the asthma susceptibility and increased serum total IgE in Uygur children in Xinjiang. T allele frequency of C-590T gene in IL4 in the asthma group was significantly higher than those in the control group. |
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105 | IL13 | rs20541 | C/T | C | Coding region | Childhood Bronchial Asthma | Uygur population | 30680016 | IL13 Arg130Gln (rs20541) gene polymorphisms is associated with the asthma susceptibility and increased serum total IgE in Uygur children in Xinjiang. The A/A genotype frequency and A allele frequency of Arg130Gln locus in IL13 in the asthma group were obviously higher than those in the control group. |
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106 | IL13 | rs848 | G/T (REV) | T | 3 Prime UTR Variant | Asthma | Italian population | 26986948 | rs848 in the IL13 gene region is significantly associated with a continuous measure of symptom severity in adult subjects with ever asthma. |
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107 | IL1RL1 | rs1420101 | A/G (REV) | A | Non Coding Transcript Variant | Asthma | - | 27699235 | rs1420101 marks eQTL in airway epithelial cells. This risk variant defines a population of asthmatics at risk of IL33 driven type 2 inflammation. |
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108 | IL1RL1 | rs11685480 | A/G | G | 2KB Upstream Variant | Asthma | - | 27699235 | rs11685480 marks eQTL in distal lung parenchyma. This risk variant defines a population of asthmatics at risk of IL33 driven type 2 inflammation. |
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109 | IL13 | - | A/G | - | - | Asthma | Indian population | 28083766 | IL13 cytokine serum levels were significantly high in atopic and non-atopic asthma patients compared to healthy controls. The GG genotype of IL13 130A/G cytokine gene might be involved in the induced production of total IgE and IL13 cytokine serum levels suggesting IL13 may be important in the signalling of asthma. |
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110 | IL13 | rs1295686 | A/G/T | A | Intron variant | Asthma | Asian population, Caucasian population | 28057889 | IL13 +1923C/T (rs1295686) polymorphism was a risk factor for asthma susceptibility, especially in Asians and Caucasians. |
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111 | IL4 | rs2227284 | A/C/G (REV) | A | Intron Variant | Childhood Allergic Rhinitis | Chinese Han population | 30170133 | The rs2227284-TG genotype at the IL4 locus was significantly associated with a 0.65-fold decreased risk of Allergic Rhinitis (AR) compared to the TT genotype. The protective effect of the rs2227284-G allele was also found in different severity of AR. A protective effect on Childhood Allergic Rhinitis was associated with the haplotype C-G-C (rs2243250-rs2227284-rs2243290). |
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112 | IL4 | rs2243250 | C/T | C | 2KB Upstream Variant | Childhood Allergic Rhinitis | Chinese Han population | 30170133 | A protective effect on Childhood Allergic Rhinitis was associated with the haplotype C-G-C (rs2243250-rs2227284-rs2243290). |
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113 | IL4 | rs2243290 | A/C | C | Intron Variant | Childhood Allergic Rhinitis | Chinese Han population | 30170133 | A protective effect on Childhood Allergic Rhinitis was associated with the haplotype C-G-C (rs2243250-rs2227284-rs2243290). |
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114 | IL12B | rs3212227 | A/C (REV) | A | 3 Prime UTR Variant | Bronchial Asthma | East Asian population | 28287286 | IL12B -1188 C allele may be a protective factor against asthma in East Asian. Promoter MM genotype may be a risk factor for asthma in East Asian and allergic people. |
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115 | IL4RA | rs8832 | A/G | A | 3 Prime UTR Variant | Asthma | - | 28326636 | GG genotype of IL4RA rs8832 was associated with type-2 endotype. GG genotype of IL4RA rs8832 may serve as risk marker of asthma exacerbations in type-2 inflammatory endotype. |
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116 | IKZF3 | rs907092 | A/G | G | Synonymous Variant | Asthma | Puerto Rican population | 28461288 | rs907092 on IKZF3 showed the most significant association with asthma. |
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117 | IL1RL1 | rs10173081 | C/T | T | Intron Variant | Asthma | Puerto Rican population | 28461288 | rs10173081 was found to be associated with asthma. |
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118 | IL33 | rs2381416 | A/C | A | - | Asthma | Dutch population | 27439200 | The risk allele C of rs2381416 was significantly associated with asthma. |
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119 | IL33 | rs1342326 | G/T (REV) | T | - | Asthma | Dutch population | 27439200 | The risk allele C of rs1342326 was significantly associated with asthma. |
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120 | IL2RB | rs2284033 | A/G | G | Intron Variant | Asthma | Dutch population | 27439200 | The risk allele G of rs2284033 was significantly associated with asthma. |
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121 | IKZF3 | rs9303277 | C/T | T | Intron Variant | Asthma | Dutch population | 27439200 | rs9303277 was significantly associated with asthma. |
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122 | IL1RL1 | rs1420101 | A/G (REV) | A | Non Coding Transcript Variant | Asthma Remission | - | 29786918 | rs1420101 was associated with complete remission of asthma. rs1420101 was associated with IL1RL1 and IL18R1 expression. rs1420101 was a trans eQTL for IL13 expression. |
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123 | IL1RL1 | rs72823641 | A/C/T | T | Intron Variant | Asthma, Allergic Diseases | European population | 29785011 | rs72823641 was associated with asthma and allergic diseases. |
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124 | IL7R | rs6881270 | C/T | C | Non Coding Transcript Variant | Asthma, Allergic Diseases | European population | 29785011 | rs6881270 was associated with asthma and allergic diseases. |
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125 | IKZF4 | rs10876864 | A/G | G | 2KB Upstream Variant | Asthma, Allergic Diseases | European population | 29785011 | rs10876864 was associated with asthma and allergic diseases. |
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126 | IL2RA | rs61839660 | C/T | C | Intron Variant | Asthma, Allergic Diseases | European population | 29785011 | rs61839660 was associated with asthma and allergic diseases. |
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127 | ITGB8 | rs6461503 | C/G/T | C | - | Asthma, Allergic Diseases | European population | 29785011 | rs6461503 was associated with asthma and allergic diseases. |
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128 | IVL, LCE1A, LCE1B, LCE1C, LCE1D, LCE6A, SMCP, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2D, SPRR2E, SPRR2F | rs61815704 | C/G | C | - | Asthma, Allergic Diseases | European population | 29785011 | rs61815704 was associated with asthma and allergic diseases. |
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129 | IL13 | rs20541 | C/T | C | Coding region | Allergic Bronchopulmonary Aspergillosis (ABPA) | Caucasian population | 27708669 | Compared to atopic asthmatics, ABPA patients were more likely to be carriers of the rare A allele of the exonic missense mutation in IL13 (rs20541). |
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130 | IL4R | rs3024656 | A/G | G | Intron Variant | Allergic Bronchopulmonary Aspergillosis (ABPA) | Caucasian population | 27708669 | Compared to atopic asthmatics, ABPA patients were more likely to be carriers of the common G allele and common GG genotype of the intronic SNP in IL4R (rs3024656). |
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131 | IL4R | rs1029489 | C/T (REV) | T | 500B Downstream Variant | Allergic Bronchopulmonary Aspergillosis (ABPA) | Caucasian population | 27708669 | rs1029489 was associated with ABPA on the ABPA versus Atopic asthma model and on the ABPA versus Healthy model. |
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132 | IL13 | rs1800925 | C/G/T | T | Intron Variant | Allergic Bronchopulmonary Aspergillosis (ABPA) | Caucasian population | 27708669 | rs1800925 was associated with ABPA on the ABPA versus Atopic asthma model and on the ABPA versus Healthy model. |
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133 | IKZF3 | rs2952140 | A/G (REV) | G | Intron Variant | Asthma | - | 27554816 | rs2952140 is an eQTL for GSDMB and ORMDL3 gene which are significantly associated with asthma risk. |
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134 | IKZF3 | rs9916765 | A/C/G/T | T | Intron Variant | Asthma | - | 27554816 | rs9916765 is an eQTL for ZPBP2 gene which is significantly associated with asthma risk. |
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135 | IL1RL1 | rs6751967 | C/T | A | Intron Variant | Asthma | - | 27554816 | rs6751967 is an eQTL for IL18R1 gene which is significantly associated with asthma risk. |
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136 | IL1RL2 | rs9646944 | C/G | G | - | Asthma | - | 27554816 | rs9646944 is an eQTL for IL1RL2 gene which is significantly associated with asthma risk. |
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137 | IGSF10 | rs9877416 | A/G | G | Intron Variant | Asthma | - | 27554816 | rs9877416 is an eQTL for P2RY13 gene which is significantly associated with asthma risk. |
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138 | IL10 | rs1800896 | A/G | A | 2KB Upstream Variant | Asthma | Egyptian population | 21624746 | A significant association was observed between the IL10 polymorphism (-1082G/A) and asthma in both atopic and non-atopic asthma groups. |
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139 | IL2RA | rs41295115 | C/T | T | - | Asthma with Hay Fever | European population, American population, Australian population | 24388013 | This single nucleotide polymorphism showed suggestive evidence for association with asthma with hay fever risk. |
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140 | IL1RL1 | rs10197862 | A/G | A | Intron Variant | Asthma with Hay Fever | European population, American population, Australian population | 24388013 | The rs10197862:A allele was associated with increased asthma with hay fever risk. |
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141 | IL33 | rs72699186 | A/T | A | - | Asthma with Hay Fever | European population, American population, Australian population | 24388013 | The rs72699186:T allele was associated with increased asthma with hay fever risk. |
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142 | IL33 | rs343496 | A/T | A | - | Asthma with Hay Fever | European population, American population, Australian population | 24388013 | rs343496 was associated with asthma with hay fever risk at a suggestive significance level. |
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143 | IKZF3 | rs12450323 | G/T | G | Intron Variant | Asthma with Hay Fever | European population, American population, Australian population | 24388013 | rs12450323 was associated with asthma with hay fever risk at a suggestive significance level. |
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144 | IL17A | rs8193036 | C/T | T | 2KB Upstream Variant | Allergic Rhinitis | Han Chinese population | 26196693 | rs8193036 in IL17A was significantly associated with Allergic Rhinitis. |
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145 | IL12 | rs2569254 | C/T | C | Intron Variant | Allergic Rhinitis | Han Chinese population | 26196693 | rs2569254 in IL12 was significantly associated with Allergic Rhinitis. |
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146 | IL2 | rs77468365 | C/G | G | Intron Variant | Allergic Rhinitis | Chinese population | 26791767 | rs77468365 showed significant correlation with the efficacy of allergic rhinitis specific immune therapy. |
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147 | IL6 | rs1800795 | C/G | G | Intron Variant | Allergic Rhinitis | Iranian population | 24974143 | Patients homozygous for the G allele of rs1800795 in IL6 had a 3.35 fold risk of having Allergic Rhinitis than those with the C allele. |
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148 | IL6 | rs1800797 | A/G | G | Intron Variant | Allergic Rhinitis | Iranian population | 24974143 | AA genotype in rs1800797 of IL6 was associated with the increased risk of developing Allergic Rhinitis. |
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149 | IL6 | rs1800795 | C/G | G | Intron Variant | Allergic Rhinitis | Chinese population | 26909898 | IL6 rs1800795 polymorphism was associated with an increased risk of allergic rhinitis. |
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150 | IL6 | rs1800795 | C/G | G | Intron Variant | Asthma | - | 26550171 | IL6 -174 CC genotype may be a protective factor against asthma in Caucasian and adults. |
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151 | IL10 | rs1800896 | A/G | A | 2KB Upstream Variant | Atopic Dermatitis | Saudi Arabian population | 29887728 | IL10 rs1800896 (−1082 G/A) polymorphism is associated with the susceptibility and can be a risk factor for Atopic Dermatitis. |
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152 | IL10 | rs1800872 | A/C (REV) | C | 2KB Upstream Variant | Childhood Atopic Dermatitis | Korean population | 17188628 | Patients with Atopic Dermatitis had a significantly lower frequency of the combined homozygous CC genotype and heterozygous AC genotype group of IL10 rs1800872 (-592A>C) as compared with Non atopic eczema patients. |
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153 | IL10 | rs1800871 | C/T (REV) | C | 2KB Upstream Variant | Childhood Atopic Dermatitis | Korean population | 17188628 | Patients with Atopic Dermatitis and non atopic eczema had a significantly lower frequency of the combined homozygous TT genotype and heterozygous CT genotype group of IL-10 rs1800871 (-819T>C) as compared with controls. |
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154 | IL10 | rs1800896 | A/G | A | 2KB Upstream Variant | Atopic Dermatitis | Polish population | 25624864 | Atopic Dermatitis patients carrying G allele in rs1800896 (-1082 G/A) IL10 polymorphism are predisposed to higher serum concentration of IL10. |
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155 | IL13 | G4257A | G/A | - | - | Atopic Dermatitis | Japanese population | 12413765 | IL13 gene polymorphism G4257A is associated with susceptibility to atopic dermatitis in Japanese patients. |
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156 | IL13 | rs1800925 | C/G/T | T | Intron Variant | Atopic Dermatitis | Polish population | 23317483 | There is a significant role of -1112 C/T IL13 gene polymorphism in the pathogenesis of Atopic Dermatitis. |
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157 | IL13 | rs20541 | C/T | C | Coding region | Atopic Dermatitis | Korean population | 24848505 | The association between cesarean delivery and Atopic Dermatitis was significantly modified by parental history of allergic diseases or risk-associated IL13 (rs20541) and CD14 (rs2569190) genotypes. There was a trend of interaction between IL13 (rs20541) and delivery mode with respect to the subsequent risk of Atopic Dermatitis. |
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158 | IL13 | rs20541 | C/T | C | Coding region | Atopic Dermatitis | White population, Asian population and others | 12847555 | The IL13 130Gln allele was associated with atopy and with atopic dermatitis. The IL13 Arg130Gln polymorphism and haplotypes consisting of IL13 Arg130Gln and IL4 C-589 T were associated with the development of atopy and atopic dermatitis. |
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159 | IL4 | rs2243250 | C/T | C | 2KB Upstream Variant | Atopic Dermatitis | White population, Asian population and others | 12847555 | The IL13 Arg130Gln polymorphism and haplotypes consisting of IL13 Arg130Gln and IL4 C-589 T were associated with the development of atopy and atopic dermatitis. |
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160 | IL10 | rs1800896 | A/G | A | 2KB Upstream Variant | Allergic Rhinitis | Iranian population | 26316419 | A/C/A, A/T/C and G/C/A haplotypes (rs1800896, rs1800871, rs1800872) in IL10 gene were found with higher frequencies in allergic rhinitis patients than controls. |
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161 | IL10 | rs1800872 | A/C (REV) | C | 2KB Upstream Variant | Allergic Rhinitis | Iranian population | 26316419 | A/C/A, A/T/C and G/C/A haplotypes (rs1800896, rs1800871, rs1800872) in IL10 gene were found with higher frequencies in allergic rhinitis patients than controls. |
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162 | IL10 | rs1800871 | C/T (REV) | C | 2KB Upstream Variant | Allergic Rhinitis | Iranian population | 26316419 | A/C/A, A/T/C and G/C/A haplotypes (rs1800896, rs1800871, rs1800872) in IL10 gene were found with higher frequencies in allergic rhinitis patients than controls. Patients with CC genotype in rs1800871 in IL10 had significantly lower levels of IgE. |
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163 | IL10 | rs1800896 | A/G | A | 2KB Upstream Variant | Asthma | Finnish population | 31074014 | IL10 rs1800896 gene polymorphism was associated with post-bronchiolitis asthma at 11-13 years of age in children hospitalised for bronchiolitis at less than six months of age. |
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164 | IL13 | rs20541 | C/T | C | Coding region | Allergic Rhinitis | Iranian population | 31832433 | IL13 polymorphism (rs20541, Exo 4, G>A, Arg130Gln) and IL4 polymorphism (rs2243250= C-590T, promoter, T>C) are co-associated with Allergic Rhinitis and sensitivity to aeroallergens. |
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165 | IL4 | rs2243250 | C/T | C | 2KB Upstream Variant | Allergic Rhinitis | Iranian population | 31832433 | IL13 polymorphism (rs20541, Exo 4, G>A, Arg130Gln) and IL4 polymorphism (rs2243250= C-590T, promoter, T>C) are co-associated with Allergic Rhinitis and sensitivity to aeroallergens. |
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166 | IL13 | rs1881457 | A/C | A | 5' Upstream variant | Allergic Rhinitis, Asthma | Pakistani population | 23996716 | rs1881457 (A-1512C) polymorphism in IL13 is a risk factor for asthma and Allergic rhinitis. |
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167 | IL13 | rs20541 | C/T | C | Coding region | Allergic Rhinitis | Malaysian population | 22852128 | Polymorphic variant of IL13 R130Q appears to be associated with increased risk for development of allergic rhinitis in a hospital-based Malaysian population. |
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168 | IL13 | rs20541 | C/T | C | Coding region | Allergic Rhinitis | Korean population | 17091279 | The IL13 exon 4 G2044A polymorphism confers susceptibility to the development of allergic rhinitis in Koreans. |
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169 | IFITM2 | rs3809112 | C/T | T | 2KB Upstream Variant | Atopic Dermatitis | European population | 22445417 | In silico analysis of genome wide single nucleotide polymorphism data revealed evidence of an association between Atopic Dermatitis and rs3809112 near IFITM2. |
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170 | IFITM2 | rs741738 | A/G | G | 500B Downstream Variant | Atopic Dermatitis | European population | 22445417 | In silico analysis of genome wide single nucleotide polymorphism data revealed evidence of an association between Atopic Dermatitis and rs741738 near IFITM2. |
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171 | IFITM3 | rs7395116 | C/G/T (REV) | C | - | Atopic Dermatitis | European population | 22445417 | In silico analysis of genome wide single nucleotide polymorphism data revealed evidence of an association between Atopic Dermatitis and rs7395116 near IFITM3. |
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172 | IL13 | G4257A | G/A | - | - | Atopic Dermatitis | German population | 10887320 | An IL13 coding region variant (G4257A) is associated with a high total serum IgE level and Atopic Dermatitis in the German multicenter atopy study. |
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173 | IL1A | rs17561 | G/T (REV) | G | Missense Variant | Asthma with Nasal Polyposis | Finnish Caucasian population | 12752325 | The distribution of the IL1A genotype (G4845T) differed significantly between asthmatics with and without nasal polyposis. The risk of nasal polyposis was markedly increased in allele G homozygous subjects. |
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174 | IL10 | rs1800896 | A/G | A | 2KB Upstream Variant | Asthma | Egyptian population | 21624746 | Polymorphism of IL10 (-1082G/A) may be useful as a new DNA-based diagnostic biomarker for identifying high-risk children susceptible to asthma. |
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175 | IL10 | rs1800896 | A/G | A | 2KB Upstream Variant | Asthma | Finnish population | 24167151 | IL10 rs1800896 SNP was significantly associated with preschool asthma after severe lower respiratory tract infection in early infancy. |
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176 | IL10 | rs1800871 | C/T (REV) | C | 2KB Upstream Variant | Asthma | South Indian population | 26108303 | An association was observed between IL10 rs1800871 and mild asthma. |
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177 | IL10 | rs1800896 | A/G | A | 2KB Upstream Variant | Asthma | South Indian population | 26108303 | An association was observed between IL10 rs1800896 and mild asthma. |
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178 | IL17F | rs1889570 | A/G/T (REV) | G | 2KB Upstream Variant | Asthma | South Indian population | 26108303 | IL17F rs1887570 AA variant was associated with a number of allergens sensitized. |
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179 | IL13 | rs20541 | C/T | C | Coding region | Allergic Rhinitis | Asian population, Caucasian population | 23545317 | IL13 SNP rs20541 was associated with Allergic Rhinitis, particularly in Asians. |
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180 | IL13 | rs20541 | C/T | C | Coding region | Allergic Rhinitis | Asian population | 23954258 | IL13 SNP rs20541 (Arg > Gln) was significantly associated with Allergic Rhinitis. |
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181 | IFNG | CA repeat polymorphism | - | - | Intron Variant | Childhood Atopic Asthma | Japanese population | 11240951 | IFNG CA repeat polymorphism confer genetic susceptibility to atopic asthma in Japanese children. |
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182 | IRF1 | GT repeat polymorphism | - | - | Intron Variant | Childhood Atopic Asthma | Japanese population | 11240951 | IRF1 GT repeat polymorphism confer genetic susceptibility to atopic asthma in Japanese children. |
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183 | IL6R | rs2228145 | A/C/T | A | Missense Variant | Asthma | European population | 22554704 | The IL6R coding SNP rs2228145 (Asp(358)Ala) is a potential modifier of lung function in subjects with asthma and might identify subjects at risk for more severe asthma. |
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184 | IL6R | rs12083537 | A/G | G | Intron Variant | Asthma | European population, Australian population | 23945879 | rs12083537:A allele increased asthma risk by 1.04-fold. |
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185 | IL6R | rs2228145 | A/C/T | A | Missense Variant | Persistent Atopic Dermatitis | European population | 23582566 | A functional amino acid change in the IL-6 receptor (IL-6R Asp358Ala; rs2228145) was significantly associated with Atopic Dermatitis. |
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186 | IFNG | rs2430561 | A/T | T | Intron Variant | Asthma | Chinese Han population | 24995662 | The allelic frequencies of the AA genotypes in IFNG at +874 is associated with an increased risk of asthma in the Chinese Han adult population. |
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187 | IFNG | CA repeat polymorphism | - | - | Intron Variant | Asthma | Japanese population | 24995662 | CA14 occurrence in the first intron of IFNG can increase the risk of asthma in the Japanese population. |
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188 | IL17RB | rs3733072 | A/C/G | G | Intron Variant | Asthma | Korean population | 19118269 | A rare allele of IL17RB +5661G>A may have a protective role against the development of asthma via regulation at the level of transcription. |
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189 | IFNG | rs1861494 | C/T | C | Intron Variant | Asthma | Indian population | 18385742 | rs1861494 A/G polymorphism was associated with asthma, which may regulate the IFNgamma levels and, hence, modulate asthma pathogenesis. |
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190 | IL13 | rs1800925 | C/G/T | T | Intron Variant | Asthma | Malaysian population | 23865080 | The -1111T mutant allele (rs1800925) are associated with asthma. |
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191 | IL13 | G4257A | A/G | - | - | Asthma | Malaysian population | 23865080 | The 4257GA heterozygous and 4257AA homozygous mutant alleles were associated with higher IL-13 production in asthmatics. |
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192 | IL13 | rs1295686 | A/G/T | A | Intron Variant | Asthma in Children | Mauritian population | 26155367 | IL13 C1923T (rs1295686) TT has been detected to be the susceptible genotype and may have a significant effect on the pathogenesis of childhood asthma in the Mauritian population. |
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193 | IL3 | rs40401 | C/T | T | Missense Variant | Asthma | Japanese population | 24684517 | IL3 SNP rs40401 is significantly associated with the risk of asthma in young adult Japanese women and the combination of ever smoking and having the CC genotype of IL3 SNP rs40401 is significantly positively associated with asthma. |
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194 | ITLN1 | rs2274907 | A/G/T | T | Missense Variant | Asthma | UK population | 19000584 | A Single-Nucleotide Polymorphism (rs2274907) in Intelectin 1 is associated with increased asthma risk. |
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195 | IL8 | rs4073 | A/T | A | 2KB Upstream Variant | Bronchial Asthma | German population | 15356575 | IL8 -A251T (rs4073) was associated with asthma, which is the opposite allele as described in association with RSV bronchiolitis. |
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196 | IL8 | rs2227306 | C/T | C | Intron Variant | Bronchial Asthma | German population | 15356575 | IL8 C781T (rs2227306) polymorphism was associated with asthma. |
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197 | IL8 | C1633T | C/T | - | - | Bronchial Asthma | German population | 15356575 | IL8 C1633T polymorphism was associated with asthma. |
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198 | IL8 | A2767T | A/T | - | - | Bronchial Asthma | German population | 15356575 | IL8 A2767T polymorphism was associated with asthma. |
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199 | IL8 | rs2227306 | C/T | C | Intron Variant | Asthma | German population | 16503988 | The IL8 polymorphism -781C/T as well as IL8 haplotypes were associated with asthma. |
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200 | IL13 | rs848 | G/T (REV) | T | 3 Prime UTR Variant | Asthma | Italian population | 26986948 | SNP rs848 in the IL13 gene region (IL5/RAD50/IL13/IL4) was associated with symptom and treatment score (STS) in asthmatics. |
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201 | IL4 | rs2243250 | C/T | C | 2KB Upstream Variant | Asthma | - | 31522432 | Polymorphism rs2243250 of IL4 was associated with asthma. |
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202 | IL4 | rs2070874 | C/T | T | 5 Prime UTR Variant | Asthma | - | 31522432 | Polymorphism rs2070874 of IL4 was associated with asthma. |
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203 | IL4R | rs1801275 | A/G | G | Missense Variant | Asthma | - | 31522432 | Polymorphism rs1801275 of IL4R was associated with asthma. |
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204 | IL4R | rs1805011 | A/C/G/T | A | Missense Variant | Asthma | - | 31522432 | Polymorphism rs2070874 of IL4R was associated with asthma. |
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205 | IL23R | rs11209026 | A/G | G | Missense Variant | Asthma | Iranian population | 26547706 | R381Q polymorphism (rs11209026) in IL-23 receptor may be a predisposing allele for asthma. |
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206 | IL33 | rs1342326 | G/T (REV) | T | - | Asthma | Iranian population | 31820077 | The rs1342326 was associated with atopic, mild and adult-onset asthma and a higher level of eosinophils in peripheral blood. |
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207 | IL33 | rs3939286 | A/G/T (REV) | G | - | Asthma | Iranian population | 31820077 | rs3939286 was more frequent in moderate and severe asthma. rs3939286 was associated with non-atopic and childhood-onset asthma. |
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208 | IL17F | rs763780 | C/T | T | Missense Variant | Asthma | Japanese population | 16630936 | IL17F H161R variant (rs763780) influences the risk of asthma. |
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209 | IL13 | rs20541 | C/T | C | Coding region | Asthma | Japanese population | 23978640 | The SNP rs20541 in IL13 was associated with airway hyperresponsiveness in Japanese adult asthmatics. |
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210 | ILVBL | rs2240299 | C/T | T | Intron Variant | Aspirin exacerbated respiratory disease (AERD) in Asthma | Korean population | 29246216 | rs2240299 showed significant association with the risk for AERD. |
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211 | ILVBL | rs7507755 | A/G | G | Intron Variant | Aspirin exacerbated respiratory disease (AERD) in Asthma | Korean population | 29246216 | rs7507755 showed significant association with the risk for AERD. |
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212 | ILVBL | rs1468198 | A/C/T | T | Intron Variant | Aspirin exacerbated respiratory disease (AERD) in Asthma | Korean population | 29246216 | rs1468198 showed significant association with the risk for AERD. |
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213 | ILVBL | rs2074261 | A/C | C | Intron Variant | Aspirin exacerbated respiratory disease (AERD) in Asthma | Korean population | 29246216 | rs2074261 showed significant association with the risk for AERD. |
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214 | ILVBL | rs13301 | C/T | T | 500B Downstream Variant | Aspirin exacerbated respiratory disease (AERD) in Asthma | Korean population | 29246216 | rs13301 showed significant association with the risk for AERD. |
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215 | IL10RA | rs3135932 | A/G | A | Missense Variant | Atopic Diseases (Atopic Asthma, Allergic Rhinitis, Atopic Dermatitis) | Egyptian population | 20232770 | The IL10RA gene SNP S138G (rs3135932) may contribute to susceptibility to atopic diseases. |
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216 | IL6 | rs1800795 | C/G | G | Intron Variant | Asthma | Egyptian population | 18810365 | IL6 (rs1800795) polymorphisms can be considered as genetic marker for bronchial asthma susceptibility and severity among Egyptian children. |
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217 | IL4 | rs2243250 | C/T | C | 2KB Upstream Variant | Atopic Allergy | Filipino population | 21537454 | The -590C/T IL4 polymorphism is a potential risk factor to and correlates with atopic allergy. |
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218 | IL18 | rs795467 | A/C/G/T | G | Intron Variant | Atopic Dermatitis | Korean population | 17517100 | The rs795467 SNP and haplotype T-T-C were significantly associated with Atopic Dermatitis. |
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219 | IL18 | rs187238 | C/G/T (REV) | G | 2KB Upstream Variant | Atopic Dermatitis | Polish population | 19453784 | G/G genotype and –137G allele of rs187238 in IL18 gene were prevalent in the atopic dermatitis patients group. |
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220 | IL4 | rs2243250 | C/T | C | 2KB Upstream Variant | Atopic Dermatitis | Swedish population | 12190659 | A linkage to the - 590C/T (rs2243250) polymorphism in the promoter of the IL4 gene was reported for the semiquantitative trait severity score of Atopic Dermatitis. |
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221 | IL12B | rs3212227 | A/C (REV) | A | 3 Prime UTR Variant | Allergic Rhinitis | Chinese Han population | 26663019 | The frequencies of the rs3212227 genotype with the CC and C alleles were higher in patients with Allergic Rhinitis. |
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222 | IL12RB1 | rs438421 | A/G/T | G | Intron Variant | Allergic Rhinitis | Chinese Han population | 25082175 | A strong association between rs438421 in a single nucleotide polymorphism of IL-12RB1 and Allergic Rhinitis was identified. |
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223 | IL27 | rs153109 | C/T | C | Intron Variant | Allergic Rhinitis | Chinese Han population | 29771013 | IL-27 p28 polymorphism rs153109 is likely to be involved in Allergic Rhinitis susceptibility. |
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224 | IL27 | rs17855750 | A/G/T (REV) | T | Missense Variant | Allergic Rhinitis | Chinese Han population | 29771013 | IL-27 p28 polymorphism rs17855750 is likely to be involved in Allergic Rhinitis susceptibility. |
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225 | IL13 | rs20541 | C/T | C | Coding region | Allergic Rhinitis | - | 21309855 | There is evidence for an overall association between IL13 SNP rs20541 and increased risk of Allergic Rhinitis. |
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226 | IL3 | rs40401 | C/T | T | Missense Variant | Allergic Rhinoconjunctivitis | Japanese population | 23953855 | A significant positive association between IL3 SNP rs40401 variant and the risk of rhinoconjunctivitis. |
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227 | ICAM1 | rs5498 | A/G | A | Missense Variant | Childhood Asthma | European population | 24393359 | The ICAM1 rs5498 A allele was positively associated with asthma development and ICAM1 gene expression. |
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228 | IL17 | rs2275913 | A/G | A | 2KB Upstream Variant | Childhood Asthma | Chinese population | 20437253 | IL17 SNP rs2275913 was associated with several asthma-related traits and confers genetic susceptibility to childhood asthma. |
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229 | IL28B | rs12979860 | C/T | T | Intron Variant | Allergic Diseases | Australian population | 22295096 | The association between rs12979860 genotype and allergic disease is enhanced in girls. |
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230 | IL4RA | rs1801275 | A/G | G | Missense Variant | Childhood Asthma | Chinese Han population | 19657898 | IL4RA Q551R and TGF-beta1 C-509T are single nucleotide polymorphism loci with significant association to childhood asthma, but they do not have synergistic effects. |
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231 | IL4RA | rs1805010 | A/C/G/T | G | Missense Variant | Asthma | - | 23922687 | The IL4RA I50V polymorphism may be risk factor for developing asthma. |
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232 | IL4RA | rs1801275 | A/G | G | Missense Variant | Asthma | - | 23922687 | The IL4RA Q551R polymorphism may be risk factor for developing asthma. |
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233 | IL13 | rs1800925 | C/G/T | T | Intron Variant | Allergy (Olive Pollen Allergy) | Spanish population | 18849614 | IL13 C-1112T polymorphism is a protective factor. |
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234 | IL13 | rs20541 | C/T | C | Coding region | Allergy (Olive Pollen Allergy) | Spanish population | 18849614 | IL13 R130Q polymorphism is a risk factor. |
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235 | IL4RA | rs1805010 | A/C/G/T | G | Missense Variant | Asthma | Spanish population | 18849614 | The interaction between IL4RA I50V (rs1805010)/Q551R (rs1801275) was strongly associated with the asthma phenotype. |
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236 | IL4RA | rs1801275 | A/G | G | Missense Variant | Asthma | Spanish population | 18849614 | The interaction between IL4RA I50V (rs1805010)/Q551R (rs1801275) was strongly associated with the asthma phenotype. |
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237 | IL4RA | rs1805010 | A/C/G/T | G | Missense Variant | Diisocyanate Asthma (DA) | Canadian population | 17201240 | A significant association was found between IL4RA (I50V) II (rs1805010) and DA among individuals exposed to hexamethylene diisocyanate (HDI). Similarly, the IL4RA (I50V) II and IL-13 (R110Q) RR combination was significantly associated with DA in HDI-exposed workers, as was the IL4RA (I50V) II and CD14 (C159T) CT genotype combination and the triple genotype combination IL4RA (I50V) II, IL-13 (R110Q) RR and CD14 (C159T) CT. |
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238 | IL13 | rs20541 | C/T | C | Coding region | Allergy (Beta Lactam Allergy) | Italian population | 17001290 | IL13 R130Q (rs20541) polymorphism with any of the predominant homozygous genotypes of the three polymorphisms (I50V, S478P, and Q551R variants) of IL4RA was more significantly associated with the risk of betalactam allergy. |
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239 | IL13 | rs1800925 | C/G/T | T | Intron Variant | Allergy (Beta Lactam Allergy) | Italian population | 17001290 | IL13 -1055 C>T polymorphism (rs1800925) with any of the predominant homozygous genotypes of the three polymorphisms (I50V, S478P, and Q551R variants) of IL4RA was more significantly associated with the risk of betalactam allergy. |
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240 | IL4RA | rs1805010 | A/C/G/T | G | Missense Variant | Allergy (Beta Lactam Allergy) | Italian population | 17001290 | IL13 -1055 C>T or R130Q polymorphism with the predominant homozygous genotype of I50V (rs1805010) polymorphism of IL4RA was more significantly associated with the risk of betalactam allergy. |
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241 | IL4RA | rs1801275 | A/G | G | Missense Variant | Allergy (Beta Lactam Allergy) | Italian population | 17001290 | IL13 -1055 C>T or R130Q polymorphism with the predominant homozygous genotype of Q551R (rs1801275) polymorphism of IL4RA was more significantly associated with the risk of betalactam allergy. |
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242 | IL4RA | rs1805015 | C/T | T | Missense Variant | Allergy (Beta Lactam Allergy) | Italian population | 17001290 | IL13 -1055 C>T or R130Q polymorphism with the predominant homozygous genotype of S478P (rs1805015) polymorphism of IL4RA was more significantly associated with the risk of betalactam allergy. |
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243 | IL4RA | rs1805010 | A/C/G/T | G | Missense Variant | Allergy (Beta Lactam Allergy) | Algerian population | 30525746 | IL4RA (I50V) was associated with beta-lactam allergy. |
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244 | IL13 | rs20541 | C/T | C | Coding region | Allergy (Beta Lactam Allergy) | Algerian population | 30525746 | IL13 (R130Q) was associated with beta-lactam allergy. |
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245 | IL4RA | rs1805010 | A/C/G/T | G | Missense Variant | Allergy (Beta Lactam Allergy) | Spanish population | 22764749 | IL4RA I50V was associated with IgE against prevalent allergens and was also predictor of Beta Lactam allergy. |
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246 | IL4RA | rs1801275 | A/G | G | Missense Variant | Allergy (Beta Lactam Allergy) | Spanish population | 22764749 | IL4RA Q551R was associated with total IgE and was also predictors of Beta Lactam allergy. |
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247 | IL13 | rs1800925 | C/G/T | T | Intron Variant | Asthma | Chinese Han population | 19862939 | IL13 C-1112T makes little contribution to the development of asthma in children of Chinese Han nationality. |
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248 | IL13 | rs1295686 | A/G/T | A | Intron Variant | Asthma | Chinese Han population | 19862939 | IL13 C1923T makes little contribution to the development of asthma in children of Chinese Han nationality. |
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249 | IL4 | rs2243250 | C/T | C | 2KB Upstream Variant | Asthma | Chinese Han population | 19862939 | IL4 C-590T makes little contribution to the development of asthma in children of Chinese Han nationality. |
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250 | IL4RA | rs1805010 | A/C/G/T | G | Missense Variant | Asthma | Chinese Han population | 19862939 | IL4RA 175V makes little contribution to the development of asthma in children of Chinese Han nationality. |
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251 | IL10 | rs1800896 | A/G | A | 2KB Upstream Variant | Aspirin-Intolerant Asthma (AIA) and Rhinosinusitis | Korean population | 19222424 | AG or GG genotype of IL-10-1082A/G was significantly higher in the patients with AIA. |
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252 | IL10 | rs1800896 | A/G | A | 2KB Upstream Variant | Asthma | North Indian population | 16008678 | A suggestive evidence of association was obtained for -1082 A/G polymorphism at the level of alleles and genotypes with asthma. |
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253 | IL10 | rs1800896 | A/G | A | 2KB Upstream Variant | Asthma | - | 24162871 | IL10 promoter -1028A/G (rs1800896), -592A/C (rs1800872) polymorphisms and their haplotypes correlate with asthma susceptibility. |
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254 | IL10 | rs1800872 | A/C (REV) | C | 2KB Upstream Variant | Asthma | - | 24162871 | IL10 promoter -1028A/G (rs1800896), -592A/C (rs1800872) polymorphisms and their haplotypes correlate with asthma susceptibility. |
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255 | IL10 | rs1800896 | A/G | A | 2KB Upstream Variant | Childhood Asthma | Korean population | 21779975 | The -1082A>G polymorphism and ATA haplotype in the IL-10 promoter gene were associated with airway hyper responsiveness (AHR) in asthmatics. |
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256 | IL4RA | rs1805010 | A/C/G/T | G | Missense Variant | Asthma | Malay population | 16757160 | Ile50Val heterozygote is less frequent in asthmatics than in controls in Malay population. |
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257 | IL10 | rs1800896 | A/G | A | 2KB Upstream Variant | Food Allergy | Taiwanese population | 23265747 | The SNP at -1082A/G was associated with Food Allergy in Taiwanese population. |
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258 | IL10 | rs1800872 | A/C (REV) | C | 2KB Upstream Variant | Food Allergy | Taiwanese population | 23265747 | The SNP at -592A/C was associated with Food Allergy in Taiwanese population. |
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259 | IL10 | rs1800871 | C/T (REV) | C | 2KB Upstream Variant | Allergy (Beta Lactam Allergy) | French population | 16867043 | Significant associations between immediate beta-lactam allergy in women and two linked IL-10 promoter gene polymorphisms, -819C>T (rs1800871) and -592 C>A (rs1800872) were noted. |
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260 | IL10 | rs1800872 | A/C (REV) | C | 2KB Upstream Variant | Allergy (Beta Lactam Allergy) | French population | 16867043 | Significant associations between immediate beta-lactam allergy in women and two linked IL-10 promoter gene polymorphisms, -819C>T (rs1800871) and -592 C>A (rs1800872) were noted. |
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261 | IL4RA | rs1805010 | A/C/G/T | G | Missense Variant | Allergy (Beta Lactam Allergy) | French population | 16867043 | A significant association between immediate beta-lactam allergy in women and the Ile75Val (rs1805010) variant of IL-4Ralpha gene was noted. |
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262 | IL13 | rs1295686 | A/G/T | A | Intron Variant | Asthma | Mauritian Indian population | 24838642 | The IL13 C1923T locus predisposed to asthma in Mauritian Indian children. |
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263 | IL4RA | rs1805010 | A/C/G/T | G | Missense Variant | Asthma | Caucasian population | 19796199 | One SNP in IL4RA1 [rs1805010(I75V)] was associated with asthma severity. |
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264 | IL13 | rs1881457 | A/C | A | 5' Upstream variant | Asthma, Atopy | Caucasian population | 19796199 | IL13 SNP rs1881457(-1512) was associated with atopy risk. rs1881457(-1512) was associated with better FEV(1) and FEV(1)/FVC in asthmatics. |
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265 | IL13 | rs20541 | C/T | C | Coding region | Atopy | Caucasian population | 19796199 | rs20541(R130Q) was associated with atopy risk. |
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266 | IL13 | rs1800925 | C/G/T | T | Intron Variant | Asthma, Atopy | Caucasian population | 19796199 | IL13 SNP rs1800925 was associated with atopy risk. rs1800925 was associated with better FEV(1) and FEV(1)/FVC in asthmatics. |
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267 | IL13 | rs20541 | C/T | C | Coding region | Asthma, Atopy | British population | 19254294 | IL13 rs20541 was significantly associated with self-reported asthma and allergy. |
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268 | IL13 | rs1800925 | C/G/T | T | Intron Variant | Asthma, Atopy | British population | 19254294 | IL13 rs1800925 was significantly associated with self-reported asthma and allergy. |
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269 | IL4 | rs2243250 | C/T | C | 2KB Upstream Variant | Asthma | Italian Caucasian population | 23527710 | IL-4 -590T/C heterozygous condition was significantly associated with asthma. |
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270 | IL10 | rs1800896 | A/G | A | 2KB Upstream Variant | Asthma | Italian Caucasian population | 23527710 | IL-10 -1082G/A heterozygous condition was significantly associated with asthma. |
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271 | IL4RA | rs1801275 | A/G | G | Missense Variant | Asthma | Italian Caucasian population | 23527710 | IL-4Ralpha +1902A/A homozygous condition was significantly associated with asthma. |
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272 | IL1A | rs1800587 | A/C/G | A | 5 Prime UTR Variant | Asthma | Italian Caucasian population | 23527710 | IL-1alpha -889C/C homozygous condition was significantly associated with asthma. |
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273 | IL33 | rs1342326 | G/T (REV) | T | - | Hay fever | German population | 27171815 | rs1342326 was positively associated with hay fever. |
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274 | IL33 | rs928413 | A/C/G | A | 2KB Upstream Variant | Hay fever | German population | 27171815 | rs928413 was positively associated with hay fever. |
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275 | IRAK4 | rs3794262 | A/C/T | - | Intron Variant | Allergic Rhinitis | Chinese population | 22932140 | The potential genetic contribution of the IRAK4 (rs3794262) gene to AR demonstrated an allergen-dependant association pattern in Chinese population. |
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276 | IRAK4 | rs4251481 | A/G | - | Intron Variant | Allergic Rhinitis | Chinese population | 22932140 | The potential genetic contribution of the IRAK4 gene (rs4251481) to AR demonstrated an allergen-dependant association pattern in Chinese population. |
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277 | IL10 | rs1800896 | A/G | A | 2KB Upstream Variant | Asthma | - | 23017230 | Significant association between -1082A/G polymorphism and asthma was observed. |
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278 | IL10 | rs1800896 | A/G | A | 2KB Upstream Variant | Occupational Allergic Dermatoses | Russian population | 26515179 | The presence of homozygous variant IL10 G1082A--AA in 80% cases characterizes early disease development, i.e. within 3 years after the first exposure to the occupational factor. |
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279 | IL10 | rs1800871 | C/T (REV) | C | 2KB Upstream Variant | Asthma | Taiwanese population | 26546526 | The CC genotype of IL10 T-819C compared to the TT genotype may have a protective effect on asthma risk in younger adults (25-40 years old), and males in Taiwan. |
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280 | IL4 | rs2243250 | C/T | C | 2KB Upstream Variant | Asthma, Allergy | Xhosa population | 29314322 | IL4 -589C>T showed multiple associations with allergic sensitization and asthma phenotypes. |
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281 | IL10 | rs1800872 | A/C (REV) | C | 2KB Upstream Variant | Asthma, Allergy | Xhosa population | 29314322 | IL10 -592A>C showed multiple associations with allergic sensitization and asthma phenotypes. |
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282 | IL10 | rs1800896 | A/G | A | 2KB Upstream Variant | Asthma, Allergy | Xhosa population | 29314322 | IL10 -1082A>G showed multiple associations with allergic sensitization and asthma phenotypes. |
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283 | IL10 | rs1800896 | A/G | A | 2KB Upstream Variant | Allergy (Allergic Reaction to Efavirenz) | Brazilian population | 22715992 | The polymorphism in the interleukin-10 gene promoter -1082G/A can be related to the development of allergic reactions to efavirenz. |
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284 | IL4 | rs2070874 | C/T | T | 5 Prime UTR Variant | Allergic Rhinitis | Iranian population | 24075353 | CC genotype in rs2070874 significantly was correlated with Allergic Rhinitis. |
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285 | IL4 | rs2243250 | C/T | C | 2KB Upstream Variant | Allergic Rhinitis | Iranian population | 24075353 | Homozygosity for the C allele of rs2243250 in IL4 was significantly overrepresented in the Allergic Rhinitis patient group. |
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286 | IL10 | rs1800896 | A/G | A | 2KB Upstream Variant | Allergy (Cow Milk Allergy) | | 23917667 | Homozygosis for the G allele at the IL10 -1082G/A (rs1800896) polymorphism is associated with the persistent form of cow's milk allergy. |
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287 | IL10 | rs1800872 | A/C (REV) | C | 2KB Upstream Variant | Asthma | - | 23017230 | Significant association between -592A/C polymorphism and asthma was observed. |
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