Record no | GENE NAME | SNP ID | CHANGES | ANCESTRAL ALLELES | FUNCTIONAL CONSEQUENCES | DISEASE | POPULATION | Pubmed ID | Comments |
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1 | CYP19A1 | rs2305707 | A/C | C | Intron variant | Allergic Rhinitis | - | 30448624 | CY19A1 SNP rs2305707 had an inverse association with allergic rhinitis. |
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2 | CYP19A1 | rs2899472 | A/C | C | Intron variant | Anaphylactic Shock, Chronic Sinusitis, Asthma | - | 30448624 | CY19A1 SNP rs2899472 exhibited an inverse association with anaphylactic shock and chronic sinusitis and was associated with asthma exacerbations. |
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3 | CD14 | rs2569190 | A/G | G | Intron variant | Childhood Bronchial Asthma | - | 26475135 | The frequency of AA genotype was significantly higher in asthmatic children compared to healthy controls. Asthmatic children carrying GG genotype had a significantly lower prevalence of atopic asthma. Meanwhile, the ‘‘A’’ allele was significantly higher in atopic asthmatic children compared to healthy and non-atopic children. Moreover, atopic |
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4 | C11orf30-LRRC32 | rs7130588 | A/G | A | - | Childhood Asthma | Non-Hispanic white (NHW) population, African American (AA) population | 30373671 | The variant (rs7130588) showed association with childhood asthma in NHWs and AAs. |
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5 | CHI3L1 | rs4950928 | A/C/G/T | C | 2KB Upstream Variant | Asthma | Caucasian ethnicity | 29233108 | There was a protective effect of CHI3L1 rs4950928 polymorphism on asthma risk in Caucasians. The G allele of CHI3L1 rs4950928 might be a protective factor against the development of asthma. |
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6 | CHIA | rs10494132 | C/T | T | 2KB Upstream Variant | Asthma | Asian ethnicity, Caucasian ethnicity | 29233108 | The rs10494132 polymorphism of CHIA might be a risk factor for asthma in Asians as well as in children of all ethnicities. |
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7 | C3AR1 | rs17801353 | A/G/T | T | - | Asthma | French Canadian women | 27445529 | The asthma risk allele for rs17801353 is associated with higher mRNA expression levels of C3AR1 in lung tissue, highlighting C3AR1 as an asthma susceptibility gene. |
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8 | CD14 | rs2569190 | A/G | G | Intron Variant | Asthma | Chinese Han population | 26365205 | For non-atopic asthma, the total-IgE levels of the heterozygous genotypes was significantly higher than the corresponding levels for the homozygous genotypes in CD14-260C > T. |
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9 | CD14 | rs5744455 | A/C/T (REV) | C | 2KB Upstream Variant | Asthma | Chinese Han population | 26365205 | For non-atopic asthma, the total-IgE levels of the heterozygous genotypes was significantly higher than the corresponding levels for the homozygous genotypes in CD14-651C > T. |
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10 | CD14 | rs744454 | C/T | C | - | Asthma | Chinese Han population | 26365205 | For non-atopic asthma, the total-IgE levels of the heterozygous genotypes was significantly higher than the corresponding levels for the homozygous genotypes in CD14-911A > C. |
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11 | CD14 | rs2569191 | A/C/T | T | 2KB Upstream Variant | Asthma | Chinese Han population | 26365205 | For non-atopic asthma, the total-IgE levels of the heterozygous genotypes was significantly higher than the corresponding levels for the homozygous genotypes in CD14-1247A > G. Allele A frequency of CD14-1247A > G was significantly different between the atopic asthma and non-atopic asthma groups. |
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12 | CYP2R1 | rs10766197 | A/C/G | G | 2KB Upstream Variant | Childhood Bronchial Asthma | Chinese Han ethnicity | 28590769 | Significant associations was found between rs10766197 of CYP2R1 and susceptibility to and prognosis of childhood bronchial asthma, providing novel target for treating the disorder. |
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13 | CYP27B1 | rs4646536 | C/T | C | Intron Variant | Childhood Bronchial Asthma | Chinese Han ethnicity | 28590769 | Significant associations was found between rs4646536 of CYP27B1 and susceptibility to and prognosis of childhood bronchial asthma, providing novel target for treating the disorder. |
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14 | CTLA4 | rs11571316 | C/G/T | C | 2KB Upstream Variant | Childhood Asthma | Czech Republican population | 28807506 | A high-risk genotype at CTLA4 gene (rs11571316) was associated with 9-times greater odds of the asthma diagnosis. |
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15 | CTLA4 | rs11571319 | C/T | C | 500B Downstream Variant | Childhood Asthma | Czech Republican population | 28807506 | rs11571319 at CTLA4 and a high Benzo[a]Pyrene exposure range was associated with a 8-times greater odds of asthma diagnosis. |
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16 | CYP2E1 | rs2070673 | A/T | A | 2KB Upstream Variant | Childhood Asthma | Czech Republican population | 28807506 | CYP2E1 AT + TT genotypes (rs2070673) was associated with 5-times greater odds of asthma diagnosis at the highest Benzo[a]Pyrene exposure. |
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17 | CD14 | rs2569190 | A/G | G | Intron Variant | Allergic Asthma | Caucasian population | 29515128 | The CD14 (-159 C/T) SNP Is Associated With sCD14 Levels and Allergic Asthma. |
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18 | CHI3L1 | rs4950928 | A/C/G/T | C | 2KB Upstream Variant | Bronchial Asthma | Japanese population | 29618952 | The age of onset of adult bronchial asthma was signifcantly younger in GG homozygotes of rs4950928 than in the other two genotypes. The concentration of CHI3L1 protein in bronchial lavage fuid increased in homozygotes of rs4950928. |
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19 | CHI3L1 | rs1214194 | C/T (FWD) | C | - | Bronchial Asthma | Japanese population | 29618952 | The age of onset of adult bronchial asthma was signifcantly younger in AA homozygotes of rs1214194. Forced expiratory volume in one second, %predicted (%FEV1), was signifcantly decreased in homozygotes of rs1214194 compared to heterozygotes and wild type. The concentration of CHI3L1 protein in bronchial lavage fuid increased in homozygotes of rs1214194. |
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20 | CHI3L1 | rs10399805 | A/G/T | G | 2KB Upstream Variant | Asthma | Swiss population | 27193312 | The SNP rs10399805 was significantly associated with asthma at 6 years. Genetic variation in CHI3L1 might be related to the development of milder forms of asthma. |
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21 | CSMD3 | rs4445257 | G/T | T | - | Childhood Asthma | Non Hispanic White population | 27367781 | Early decline of FEV1 after normal growth is potentially associated with a genetic polymorphism (rs4445257) that may be protective of early decline in reduced growth groups. This SNP physically interacts with CSMD3 promoter in vitro and is associated with expression of the CSMD3 gene. |
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22 | CTLA-4 | rs231775 | A/G/T | A | Missense Variant | Asthma | Asian population | 29995780 | The +49A/G polymorphism in CTLA-4 was an important risk factor for asthma susceptibility, especially in Asian individuals, children, and atopic patients. |
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23 | CYLD | rs1861760 | A/G/T (REV) | G | - | Asthma | European Ancestry | 27130862 | rs1861760 in 16q12 loci was found to be associated with time to asthma onse (TAO) at genome-wide significance levels. |
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24 | CSF3 | rs1042658 | C/G/T | C | Non Coding Transcript Variant | Asthma | Slovenian population | 27163155 | rs1042658 was highly associated with asthma. |
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25 | CHI3L1 | rs946261 | C/T | C | - | Late Onset Adult Asthma | Japanese population | 30940096 | The C allele at rs946261 was significantly associated with reduced expression of CHI3L1 mRNA in the lung and with development of asthma. |
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26 | CDHR3 | rs6967330 | A/G | A | Missense Variant | HRV-C Infection and Childhood Asthma Exacerbations | Hispanic population | 30930175 | The rs6967330 SNP confers risk of severe childhood asthma exacerbations, likely through increasing HRV-C infection levels and protein surface localization. |
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27 | CD14 | rs2569190 | A/G | G | Intron Variant | Asthma | Kolkata population | 29937881 | Among asthma patients, frequency of C allele of CD14 C(-159)T Polymorphism (rs2569190) is significantly higher in childhood-onset group than that of adult-onset and concordantly in former CC genotype was associated with significant higher level of serum IgE than CT and TT. |
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28 | CDH17 | rs117579120 | A/C | C | Intron Variant | Diisocyanate Induced Asthma | European population | 29969634 | rs117579120, associated with Diisocyanate Induced Asthma is considered most likely to function by altering gene regulatory mechanism in disease relevant cells. |
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29 | CDH17 | rs2251996 | C/G | G | Intron Variant | Diisocyanate Induced Asthma | European population | 29969634 | rs2251996, associated with Diisocyanate Induced Asthma is considered most likely to function by altering gene regulatory mechanism in disease relevant cells. |
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30 | CCL28 | rs6870783 | C/G | C | Intron Variant | Asthma | Spanish population | 28079285 | The minor allele (G allele) of rs6870783 had a protective effect for asthma susceptibility. |
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31 | CD14 | rs2569190 | A/G | G | Intron variant | Asthma | - | 27684840 | The CD14 -159C/T variant may decrease the risk of asthma susceptibility in adults. |
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32 | CTSS | rs7534124 | C/T | C | 2KB Upstream Variant | Asthma | Chinese Han population | 27249607 | rs7534124 CT and CT + CC genotypes had significantly decreased risk of asthma compared to TT genotype. |
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33 | CTSS | rs1136774 | A/G (REV) | G | 5 Prime UTR Variant | Asthma | Chinese Han population | 27249607 | The rs1136774 AG and AG + GG genotypes were associated with a decreased risk of asthma. |
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34 | CTLA4 | rs3087243 | A/G | G | 500B Downstream Variant | Allergic Rhinitis with Asthma (In Children) | Chinese Han population | 29871152 | An increased frequency of the AA genotype and A allele in rs3087243 of CTLA4 was found in Allergic Rhinitis with asthma group. |
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35 | CTLA4 | rs231725 | A/G | G | - | Allergic Rhinitis with Asthma (In Children) | Chinese Han population | 29871152 | For rs231725, AA genotype and A allele were increased in Allergic Rhinitis group, while they were significantly decreased in Allergic Rhinitis with asthma group. |
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36 | CTLA4 | rs3087243 | A/G | G | 500B Downstream Variant | Allergic Rhinitis with Asthma (In Children) | Chinese Han population | 27917628 | For CTLA-4, AA genotype and A allele in rs3087243 were increased in Allergic Rhinitis with asthma group. |
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37 | CTLA4 | rs231725 | A/G | G | - | Allergic Rhinitis with Asthma (In Children) | Chinese Han population | 27917628 | For CTLA-4, AA genotype and A allele in rs231725 were increased in Allergic Rhinitis with asthma group while in Allergic Rhinitis group, AA genotype and A allele in rs231725 were obviously decreased. |
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38 | CYP2R1 | rs12794714 | A/G | G | Synonymous Variant | Asthma | Tunisian population | 29502202 | The presence of at least one copy of the rs12794714 A, allele was associated with lower risk of developing asthma. The rs12794714 is a protector factor against asthma severity. |
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39 | CYP27B1 | rs10877012 | C/G/T | G | 2KB Upstream Variant | Asthma | Tunisian population | 29502202 | The presence of rs10877012 TG genotype is a risk factor related to asthma severity. |
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40 | CXCR6, FYCO1 | rs1386931 | C/T | C | 3 Prime UTR Variant, Intron Variant | Asthma and Allergy Traits | Saguenay Lac Saint Jean Population | 30206357 | A rare variant, rs1386931 was found to be associated with eosinophil percentage. |
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41 | CD14 | rs2569190 | A/G | G | Intron Variant | Atopic Dermatitis | - | 31049080 | In this pilot study, it was found that the addition of probiotics to standard treatment protocol of Atopic Dermatitis significantly increased the effectiveness of treatment of atopic dermatitis in adults with exogenous form and CC genotype (C-159T). |
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42 | CDHR3 | rs6967330 | A/G | A | Missense Variant | Early Onset Adult Asthma | Japanese population | 28318885 | The A allele at rs6967330 was associated with early onset adult asthma. |
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43 | CYSLTR1 | rs2806489 | A/G (REV) | A | 2KB Upstream Variant | Asthma | Japanese population | 28034578 | In women with asthma, rs2806489 was associated with sensitization to Staphylococcus aureus enterotoxin B (SEB) and age at asthma onset. |
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44 | C11orf30, LOC100506127, PRKRIR | rs7936070 | A/G/T | G | - | Asthma, Allergic Diseases | European population | 29785011 | rs7936070 was associated with asthma and allergic diseases. |
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45 | CLEC16A | rs36045143 | A/G | A | Intron Variant | Asthma, Allergic Diseases | European population | 29785011 | rs36045143 was associated with asthma and allergic diseases. |
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46 | CD247 | rs1214598 | A/C/G/T (REV) | C | Intron Variant | Asthma, Allergic Diseases | European population | 29785011 | rs1214598 was associated with asthma and allergic diseases. |
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47 | C5orf56 | rs2548992 | A/G/T | G | Intron Variant | Asthma, Allergic Diseases | European population | 29785011 | rs2548992 was associated with asthma and allergic diseases. |
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48 | CLEC16A | rs35441874 | A/T | T | Intron Variant | Asthma | - | 27554816 | rs35441874 is an eQTL for CLEC16A gene which is significantly associated with asthma risk. |
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49 | CLEC16A | rs7184491 | C/T | T | Intron Variant | Asthma | - | 27554816 | rs7184491 is an eQTL for SOCS1 gene which is significantly associated with asthma risk. |
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50 | CLK3 | rs9268853 | C/T | T | - | Asthma | - | 27554816 | rs9268853 is an eQTL for CLK3 gene which is significantly associated with asthma risk. |
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51 | C6orf10 | rs522254 | C/T (REV) | T | Intron Variant | Asthma | - | 27554816 | rs522254 is an eQTL for HLA-DRB6 gene which is significantly associated with asthma risk. |
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52 | COL23A1 | rs4976765 | A/G | G | Intron Variant | Asthma | - | 27554816 | rs4976765 is an eQTL for F12 gene which is significantly associated with asthma risk. |
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53 | CLEC16A | rs62026376 | C/T | C | Intron Variant | Asthma with Hay Fever | European population, American population, Australian population | 24388013 | The rs62026376:C allele was associated with increased asthma with hay fever risk. |
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54 | CCL5 | rs2107538 | C/T | T | 2KB Upstream Variant | Allergic Rhinitis | Korean population | 15064621 | The frequency of RANTES -403A (rs2107538) allele was significantly higher in patients with allergic rhinitis than in control subjects. |
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55 | CCL5 | rs2280788 | C/G (REV) | C | 2KB Upstream Variant | Allergic Rhinitis | Korean population | 15064621 | The frequency of RANTES -28G (rs2280788) allele was significantly higher in patients with allergic rhinitis than in control subjects. |
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56 | CD14 | rs2569190 | A/G | G | Intron variant | Allergic Rhinitis | Korean population | 25840711 | The risk for the development of Allergic Rhinitis or atopic Allergic Rhinitis in subjects with the CD14 TT genotype were highest when all the 3 early-life factors were present. |
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57 | CCL5 | rs2280788 | C/G (REV) | C | 2KB Upstream Variant | Asthma | - | 25898691 | CCL5 -28C/G (rs2280788) polymorphism is a risk factor for asthma. |
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58 | CCL5 | -401 G/A | G/A | - | - | Atopic Dermatitis | Japanese population | 16046258 | The RANTES promoter -401A polymorphism plays a role in the development of Atopic Dermatitis by up regulating serum levels of RANTES in Japanese patients. |
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59 | CCL5 | -401 G/A | G/A | - | - | Atopic Dermatitis | African population, Caucasian population, German population | 10640782 | A higher frequency of -401A was observed in individuals of African descent compared with Caucasian subjects. The mutant allele was associated with atopic dermatitis in children of the German Multicenter Allergy Study, but not with asthma. |
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60 | CD14 | rs2569190 | A/G | G | Intron variant | 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. |
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61 | CD14 | rs2569190 | A/G | G | Intron variant | Asthma | Korean population | 17196641 | Asthmatic children show a synergistic effect between the TNF-alpha promoter (-308A) and CD14 promoter (-159C) polymorphisms in terms of broncho hyperresponsiveness. |
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62 | CTLA4 | rs3087243 | A/G | G | 500B Downstream Variant | Childhood Asthma | Slovenian population | 19895365 | SNP CT60 in the CTLA4 gene (rs3087243) plays only a minor role in genetic susceptibility to childhood asthma |
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63 | CACNG6 | rs192808 | C/T (REV) | T | Intron Variant | Aspirin-intolerant Asthma (AIA) | Korean population | 20860846 | The CACNG6 variant (rs192808) might be associated with the risk of AIA in a Korean population. |
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64 | COL4A1 | rs3783107 | C/T (REV) | C | Intron Variant | Asthma, Eczema, Hypertension | Finnish population | 31815553 | There are genotype-phenotype associations between the COL4A1 gene variant rs3783107 and hypertension, asthma, and eczema. |
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65 | CRTH2 | rs533116 | C/T | C | - | Allergic Asthma | Ethnically diverse population | 22947041 | CRTh2 rs533116 is associated with allergic asthma and increased expression of CRTh2. |
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66 | CYP3A4 | rs2242480 | C/T | T | Intron Variant | Allergy (Beta Lactam Allergy) | Han Chinese population | 26160721 | The genotype distribution of CYP3A4 rs2242480/CT differed significantly between case (beta lactam allergy) and control groups of males. |
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67 | C3 | rs10402876 | C/G | G | Intron Variant | Asthma | African Caribbean population | 16355111 | A five SNP window between markers rs10402876 and rs366510 provided strongest evidence for linkage in the presence of linkage disequilibrium for asthma. A three SNP haplotype GGC for the first three of these markers showed best overall significance for the three phenotypes. |
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68 | C3 | rs366510 | A/C/G/T | G | Intron Variant | Asthma | African Caribbean population | 16355111 | A five SNP window between markers rs10402876 and rs366510 provided strongest evidence for linkage in the presence of linkage disequilibrium for asthma. A three SNP haplotype GGC for the first three of these markers showed best overall significance for the three phenotypes. |
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69 | CLEC16A | rs7203459 | C/T | C | Intron Variant | Allergic Rhinitis | Han Chinese population | 32082391 | Significant Allergic Rhinitis risk was associated with rs7203459 in CLEC16A. |
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70 | CCL11 | rs17809012 | A/G/T | G | 2KB Upstream Variant | Asthma | African American population | 16461130 | One CCL11 SNP, -384A>G, was associated with asthma among African American families |
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