Record no | GENE NAME | SNP ID | CHANGES | ANCESTRAL ALLELES | FUNCTIONAL CONSEQUENCES | DISEASE | POPULATION | Pubmed ID | Comments |
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1 | GENE_NAME | dbSNP_ID | CHANGES | ANCESTRAL_ALLELES | FUNCTIONAL_CONSEQUENCES | DISEASE | POPULATION | PMID | COMMENTS |
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2 | GSDMB | rs8069176 | A/G/T | G | - | Childhood Asthma | Non-Hispanic white (NHW) population, African American (AA) population | 30373671 | The variant (rs8069176) showed association with childhood asthma in NHWs population. |
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3 | GLCCI1 | rs11976862 | A/C/G | A | Intron Variant | Asthma | Han Chinese population | 27133712 | rs11976862 homozygote mutant genotype GG was nominally associated with increased asthma risk. Changes of GLCCI1 mRNA expression were significantly related with rs11976862 in a recessive model. |
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4 | GLCCI1 | rs37972 | A/C/T | C | 2KB Upstream Variant | Asthma | Han Chinese population | 27133712 | rs37972 showed marginal association with asthma susceptibility after adjusting for covariates. Significant correlations of change in FEV1 after corticosterois treatment were observed for rs37972. |
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5 | GLCCI1 | rs37973 | A/C/G | A | 2KB Upstream Variant | Asthma | Han Chinese population | 27133712 | Changes of GLCCI1 mRNA expression and FEV1 after corticosteroid treatment were significantly related with rs37973 in a recessive model. |
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6 | GLCCI1 | rs58272960 | -/T | T | 3 Prime UTR Variant | Asthma | Han Chinese population | 27133712 | rs58272960 showed marginal association with asthma susceptibility after adjusting for covariates. |
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7 | GLT1D1 | rs517020 | A/G/T | G | Intron Variant | Asthma | - | 26031901 | rs517020 in GLT1D1 was associated with worsening responses to both montelukast and zileuton in asthma patients. |
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8 | GLCCI1 | rs37972 | A/C/T | C | 2KB Upstream Variant | Bronchial Asthma | Japanese population | 28488322 | TT of rs37972 was associated with a higher number of asthma treatment steps. The amount of GLCCI1 protein that cultured epithelial cells harboring GLCCI1 variants produced was less than the GLCCI1 wild type in the presence of a corticosteroid. |
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9 | GLCCI1 | rs37973 | A/C/G | A | 2KB Upstream Variant | Bronchial Asthma | Japanese population | 28488322 | GG of rs37973 was associated with a higher number of asthma treatment steps. The amount of GLCCI1 protein that cultured epithelial cells harboring GLCCI1 variants produced was less than the GLCCI1 wild type in the presence of a corticosteroid. |
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10 | GSDMB | rs2305480 | C/T | C | Missense Variant | Childhood Asthma | Chinese population | 26534891 | Childhood asthma was associated with GSDMB rs2305480. GSDMB rs2305480 was only associated with early-onset asthma. rs2305480 of GSDMB is also associated with low FEV1, FVC and FEV1 /FVC among asthmatics. Moreover, SLC22A5, IL13, SMAD3, and GSDMB interact to modulate spirometric indices. |
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11 | GC | rs7041 | A/G/T | T | Missense Variant | Childhood Bronchial Asthma | Chinese Han ethnicity | 28590769 | Significant associations was found between rs7041 of GC and susceptibility to and prognosis of childhood bronchial asthma, providing novel target for treating the disorder. The haplotype analysis suggested that TA of rs7041 was correlated with levels of VD, IL-4, and IL-5. |
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12 | GC | rs4588 | A/C/T | C | Missense Variant | Childhood Bronchial Asthma | Chinese Han ethnicity | 28590769 | Significant associations was found between rs4588 of GC and susceptibility to and prognosis of childhood bronchial asthma, providing novel target for treating the disorder. The haplotype analysis suggested that CG of rs4588 was correlated with levels of VD, IL-4, and IL-5. |
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13 | GSDMB | rs7216389 | C/T | T | Intron Variant | Childhood Asthma | Jordanian population | 26886240 | An association between the GSDMB T/C single nucleotide polymorphism (SNP) genotype and the incidence of childhood asthma was found. At the haplotype level, GC haplotype was found to be associated with the risk of asthma in children. |
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14 | GSDMB | rs2305480 | C/T | C | Missense Variant | Childhood Asthma | Swedish population | 26786172 | rs2305480 in GSDMB is a high-risk genetic variant associated specifically with childhood asthma. |
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15 | GSDMB | rs7216389 | C/T | T | Intron Variant | Childhood Asthma | Swedish population | 26786172 | rs7216389 in GSDMB is a high-risk genetic variant associated specifically with childhood asthma. |
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16 | GSDMB | rs11078927 | C/T | C | Intron Variant | Childhood Asthma | Swedish population | 26786172 | rs11078927 in GSDMB is a high-risk genetic variant associated specifically with childhood asthma. |
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17 | GSDMA | rs3894194 | C/T | C | Missense Variant | Childhood Asthma | Swedish population | 26786172 | rs3894194 in GSDMA is a high-risk genetic variant associated specifically with childhood asthma. |
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18 | GSDMB | rs2305480 | G/A | G | Missense Variant | Asthma | American Indian population | 28668238 | rs2305480 was suggestive of case control status considering the major allele in a dominant model. This SNP was associated with asthma. |
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19 | GSDMB | rs7216389 | C/T | T | Intron Variant | Asthma | American Indian population | 28668238 | rs7216389 was suggestive of case control status considering the major allele in a dominant model. This SNP was associated with asthma. |
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20 | GLCCI1 | rs37973 | A/C/G | A | 2KB Upstream Variant | Asthma | Slovenian population | 29345236 | rs37973 in GLCCI1 is associated with treatment response in asthma; however, this association is highly modified by smoking status and atopy. |
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21 | GLCCI1 | rs37973 | A/C/G | A | 2KB Upstream Variant | Asthma | Chinese population | 29384926 | The genetic variant rs37973 in GLCCI1 is associated with poorer clinical therapeutic response to inhaled glucocorticoids in Chinese asthma population. |
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22 | GSTP1 | rs1695 | A/G | G | Missense Variant | Childhood Asthma | Asian population | 29411558 | GSTP1 AA genotype was associated with higher risk of asthma compared with the GG genotype. Compared to the GG genotype, children with a GSTP1 AA genotype had higher urine Bisphenol A glucuronide (BPAG) concentrations. In children with high BPAG, the GSTP1 AA genotype was related to a higher odds of asthma than the GG genotype. |
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23 | GSDMA | rs3859192 | C/T | C | Intron Variant | Asthma | European Ancestry | 27130862 | Secondary signals were associated with time to asthma onset (TAO) after stepwise conditional analysis in rs3859192 in 17q12-q21 region. |
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24 | GSDMB | rs2305480 | C/T (REV) | C | Missense Variant | Asthma | Slovenian population | 27163155 | rs2305480 was associated with childhood asthma. |
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25 | GLCCI1 | rs37973 | A/C/G | A | 2KB Upstream Variant | Asthma | Chinese Han population | 30937140 | The serum levels of epinephrine and cortisol was significantly higher in GLCCI1 rs37973 GG genotype group than those in AA + GG gentotype group. The poor ICS response in GLCCI1 rs37973 mutant genotype might be related to the less increased amplitudes of plasma epinephrine and cortisol in asthmatic patients. |
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26 | GSDMA | rs3859192 | C/T | C | Intron Variant | Asthma, Rhino Conjunctivitis | Sicilian children | 30646946 | Rhino Conjunctivitis was modestly associated with rs3859192. rs3859192 had high frequencies of the minor allele homozygote genotypes in Rhino Conjunctivitis as compared with controls, in which genotypes are characterized by the presence of the major allele. |
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27 | GSDMA | rs3894194 | C/T (REV) | C | Missense Variant | Asthma, Rhino Conjunctivitis | Sicilian children | 30646946 | Rhino Conjunctivitis was modestly associated with rs3894194. rs3894194 showed high frequencies of heterozygote genotypes in Rhino Conjunctivitis patients as compared with control subjects, which are frequently homozygous. |
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28 | GSDMA | rs7212938 | A/C/G/T | T | Missense Variant | Asthma, Rhino Conjunctivitis | Sicilian children | 30646946 | Rhino Conjunctivitis was modestly associated with rs7212938. rs7212938 had high frequencies of the minor allele homozygote genotypes in Rhino Conjunctivitis as compared with controls, in which genotypes are characterized by the presence of the major allele. |
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29 | GSDMB | rs870830 | C/G/T (REV) | C | Intron Variant | Aspirin Exacerbated Respiratory Disease (AERD) | Korean population | 28052796 | rs870830 showed significant associations with AERD. |
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30 | GSDMB | rs7216389 | C/T | T | Intron Variant | Aspirin Exacerbated Respiratory Disease (AERD) | Korean population | 28052796 | rs7216389 showed significant associations with AERD. |
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31 | GSDMB | rs7216389 | C/T | T | Intron Variant | Pediatric Asthma | Caucasian population, Asian population | 28006895 | 17q21 locus rs7216389 polymorphism was significantly associated with paediatric asthma risk. |
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32 | GSTP1 | rs1695 | A/G | G | Missense Variant | Asthma | Portuguese population | 27561723 | Comparing to controls, significant association with asthma was observed for GSTP1 rs1695 AA genotype. |
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33 | GSDMB | rs2305480 | C/T | C | Missense Variant | Asthma | - | 29330013 | rs2305480 of the gasdermin B (GSDMB) gene in the 17q21 locus were associated with lower asthma risk. |
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34 | GSDMB | rs11078928 | A/C/T | T | Splice Acceptor Variant | Asthma | - | 29330013 | rs11078928 of the gasdermin B (GSDMB) gene in the 17q21 locus were associated with lower asthma risk. The splice variant rs11078928 deletes the entire exon 6, which encodes 13 amino acids in the critical N-terminus and abolishes the pyroptotic activity of the GSDMB protein. |
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35 | GLI2 | rs11684871 | A/G | G | Intron Variant | Asthma | European population | 27387956 | The interaction of rs910652 and rs11684871 was associated with asthma susceptibility. |
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36 | GSTM1 | - | - | - | - | Allergic Asthma | Pakistani population | 30258913 | No association of GSTM1 and GSTT1 in pathogenesis of asthma was noted. However, combined GSTM1+ and GSTT- genotype could be a possible candidate for development of allergic asthma beside family history. |
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37 | GSTT1 | - | - | - | - | Allergic Asthma | Pakistani population | 30258913 | No association of GSTM1 and GSTT1 in pathogenesis of asthma was noted. However, combined GSTM1+ and GSTT- genotype could be a possible candidate for development of allergic asthma beside family history. |
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38 | GSTP1 | rs1695 | A/G | G | Missense Variant | Asthma | Turkish population | 27385593 | GSTP1 Ile105Val (rs1695) polymorphism may be linked to the severeness of airway dysfunction in asthmatic patients. |
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39 | GSDMB | rs2305480 | C/T | C | Missense Variant | Asthma | Puerto Rican population | 28461288 | rs2305480 was associated with asthma. |
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40 | GSDMB | rs11078927 | C/T | C | Intron Variant | Asthma | Puerto Rican population | 28461288 | rs11078927 was found to be associated with asthma. |
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41 | GSDMB | rs2305480 | C/T (REV) | C | Missense Variant | Asthma | Dutch population | 27439200 | The risk allele G of rs2305480 was significantly associated with asthma. The risk allele G of rs2305480 on chromosome 17q12 was associated with a higher level of CD4 T cells in asthma airway wall biopsies of asthmatics. The G allele of rs2305480 was associated with a higher number eosinophils in airway wall biopsies of asthmatics. |
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42 | GSDMB | rs11078927 | C/T | C | Intron Variant | Asthma | Dutch population | 27439200 | The risk allele C of rs11078927 was significantly associated with asthma. |
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43 | GSDMA | rs3894194 | C/T (REV) | C | Missense Variant | Asthma | Dutch population | 27439200 | The risk allele A of rs3894194 was significantly associated with asthma. |
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44 | GSDMB | rs2290400 | A/G (REV) | G | Intron Variant | Asthma | Dutch population | 27439200 | The risk allele T of rs2290400 on chromosome 17q12 was associated with a higher level of CD4 T cells in asthma airway wall biopsies of asthmatics. |
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45 | GSDMB | rs8067378 | A/G | G | - | Asthma | Dutch population | 27439200 | rs8067378 was significantly associated with asthma. |
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46 | GSDMB | rs7216389 | C/T | T | Intron Variant | Asthma | Dutch population | 27439200 | rs7216389 was significantly associated with asthma. |
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47 | GLDC, IL33, TPD52L3, UHRF2 | rs9775039 | A/G | G | - | Asthma, Allergic Diseases | European population | 29785011 | rs9775039 was associated with asthma and allergic diseases. |
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48 | GSDMB | rs869402 | A/C/T | T | Intron Variant | Asthma, Allergic Diseases | European population | 29785011 | rs869402 was associated with asthma and allergic diseases. |
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49 | GLDC, UHRF2 | rs2169282 | A/G | A | - | Asthma, Allergic Diseases | European population | 29785011 | rs2169282 was associated with asthma and allergic diseases. |
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50 | GATA3 | rs10795656 | A/G/T | G | - | Asthma, Allergic Diseases | European population | 29785011 | rs10795656 was associated with asthma and allergic diseases. |
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51 | GSDMA | rs7212938 | A/C/G/T | T | Missense Variant | Asthma with Hay Fever | European population, American population, Australian population | 24388013 | The rs7212938:G allele was associated with increased asthma with hay fever risk. |
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52 | GLCCI1 | rs37973 | A/C/G | A | 2KB Upstream Variant | Seasonal Allergic Rhinitis (SAR) | Chinese Han population | 29981236 | The GLCCI1 rs37973 variant is a risk factor for glucocorticoid resistance in Chinese patients with SAR who receive short-term INCS (Intranasal Corticosteroids) treatment. |
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53 | GATA3 | rs1269486 | A/G | G | Intron Variant | Allergic Rhinitis | Chinese population | 18826115 | The SNP at rs1269486 of GATA3 is associated with allergic rhinitis in Chinese. |
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54 | GATA3 | rs1269486 | A/G | G | Intron Variant | Allergic Rhinitis | Chinese population | 18607915 | The frequency of the G allele of rs1269486 in the patient group was significantly higher than that in the control group, while the frequency of the A allele in the patient group was significantly lower than that in the control group. The haplotype frequency of GC at the two loci (rs1269486 and rs2229360) in the patient group was significantly higher than that in the control group, and the haplotype frequency of AC in the patient group was significantly lower than that in the control group. |
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55 | GATA3 | rs2229360 | A/C/T | C | 3 Prime UTR Variant | Allergic Rhinitis | Chinese population | 18607915 | The haplotype frequency of GC at the two loci (rs1269486 and rs2229360) in the patient group was significantly higher than that in the control group, and the haplotype frequency of AC in the patient group was significantly lower than that in the control group. |
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56 | GATA3 | rs422628 | C/T | T | Intron Variant | Asthma | UK population | 25250096 | cg17124583 modified the association of SNP rs422628 with asthma risk at the age of 18 years. Subjects with genotype AG showed an increase in average risk ratio from 0.31 to 11.65 when methylation level increased from 0.02 to 0.12, relative to genotype AA. |
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57 | GATA3 | rs1269486 | A/G | G | Intron Variant | Asthma | UK population | 25250096 | The interaction between Oral Contraceptive Pill (OCP) use and SNP rs1269486 was found to be associated with the methylation level of cg17124583 in asthma. |
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