Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12936231
rs12936231
CUI: C0004096
Disease: Asthma
Asthma
0.720 GeneticVariation BEFREE This study aimed to investigate whether variation in the functional 17q21 single nucleotide polymorphism rs12936231 affects the preventive potential of vitamin D against asthma.A combined secondary analysis of two randomised controlled trials of prenatal vitamin D supplementation for the prevention of asthma in offspring (Vitamin D Antenatal Asthma Reduction Trial (VDAART) and Copenhagen Prospective Studies on Asthma in Childhood 2010 (COPSAC<sub>2010</sub>)) was performed, stratifying by genotype and integrating metabolite data to explore underlying mechanisms.The protective effect of vitamin D on asthma/wheeze was evident among children with the low-risk rs12936231 GG genotype (hazard ratio (HR) 0.49, 95% CI 0.26-0.94, p=0.032) but not the high-risk CC genotype (HR 1.08, 95% CI 0.69-1.69, p=0.751). 31439681

2019

dbSNP: rs12936231
rs12936231
CUI: C0004096
Disease: Asthma
Asthma
0.720 GeneticVariation BEFREE For 3 of these SNPs, we found significant interaction with smoking and asthma (rs12936231, rs2290400, and rs8079416). 22626592

2012

dbSNP: rs12936231
rs12936231
CUI: C0004096
Disease: Asthma
Asthma
0.720 GeneticVariation GWASDB Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations. 21804549

2011

dbSNP: rs11557467
rs11557467
CUI: C0004096
Disease: Asthma
Asthma
0.710 GeneticVariation BEFREE Subjects carrying the G allele of rs11557467 or the C allele of rs9303277 showed increased risk of asthma (odds ratio [OR] 1.27, 95% confidence interval 1.07-1.51, P = 0.006, and OR 1.27, 1.07-1.49, P = 0.005, respectively), even after adjusting for age and sex. 21985515

2011

dbSNP: rs11557467
rs11557467
CUI: C0004096
Disease: Asthma
Asthma
0.710 GeneticVariation GWASDB A large-scale, consortium-based genomewide association study of asthma. 20860503

2010

dbSNP: rs4795397
rs4795397
CUI: C0004096
Disease: Asthma
Asthma
A 0.710 GeneticVariation GWASCAT A meta-analysis of genome-wide association studies of asthma in Puerto Ricans. 28461288

2017

dbSNP: rs4795397
rs4795397
CUI: C0004096
Disease: Asthma
Asthma
0.710 GeneticVariation BEFREE We found that a single nucleotide polymorphism rs4795397 influences the activity of ZPBP2 promoter in vitro in an allele-dependent fashion, and also leads to nucleosome repositioning on the asthma-associated allele. 22271045

2012

dbSNP: rs1054609
rs1054609
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 GeneticVariation GWASDB Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. 22961000

2012

dbSNP: rs1054609
rs1054609
CUI: C0004096
Disease: Asthma
Asthma
0.700 GeneticVariation GWASDB Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations. 21804549

2011

dbSNP: rs10852935
rs10852935
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 GeneticVariation GWASDB Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. 22961000

2012

dbSNP: rs10852936
rs10852936
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction
T 0.700 GeneticVariation GWASDB A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. 23817569

2013

dbSNP: rs10852936
rs10852936
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 GeneticVariation GWASDB Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. 22961000

2012

dbSNP: rs11078925
rs11078925
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction
C 0.700 GeneticVariation GWASDB A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. 23817569

2013

dbSNP: rs11078925
rs11078925
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 GeneticVariation GWASDB Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. 22961000

2012

dbSNP: rs11078925
rs11078925
CUI: C0004096
Disease: Asthma
Asthma
0.700 GeneticVariation GWASDB Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations. 21804549

2011

dbSNP: rs11557466
rs11557466
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction
T 0.700 GeneticVariation GWASDB A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. 23817569

2013

dbSNP: rs11557466
rs11557466
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 GeneticVariation GWASDB Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. 22961000

2012

dbSNP: rs11557466
rs11557466
CUI: C0004096
Disease: Asthma
Asthma
0.700 GeneticVariation GWASDB Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations. 21804549

2011

dbSNP: rs11557467
rs11557467
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction
T 0.700 GeneticVariation GWASDB A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. 23817569

2013

dbSNP: rs11557467
rs11557467
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 GeneticVariation GWASDB Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. 22961000

2012

dbSNP: rs11557467
rs11557467
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 GeneticVariation GWASDB Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants. 22936693

2012

dbSNP: rs11557467
rs11557467
CUI: C0264408
Disease: Childhood asthma
Childhood asthma
0.700 GeneticVariation GWASDB Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma. 17611496

2007

dbSNP: rs11650661
rs11650661
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 GeneticVariation GWASDB Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. 22961000

2012

dbSNP: rs11655198
rs11655198
CUI: C0004096
Disease: Asthma
Asthma
0.700 GeneticVariation GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965

2016

dbSNP: rs11658278
rs11658278
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
T 0.700 GeneticVariation GWASCAT Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737

2018