rs11171739

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GWAS Catalog Trait Associations (7)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

brain attribute

van der Meer D et al. “The genetic architecture of human cortical folding.” Science Advances 7(51):eabj9446 (2021)
Allele C
OR 12.04
p 2.0e-33
N 33,748
Large GWAS
European

autoimmune disease

Márquez A et al. “Meta-analysis of Immunochip data of four autoimmune diseases reveals novel single-disease and cross-phenotype associations.” Genome Medicine 10(1):97 (2018)
Allele C
OR —
p 2.0e-20
N 59,468
Meta-analysisLarge GWAS
European

type 2 diabetes mellitus

Márquez A et al. “Meta-analysis of Immunochip data of four autoimmune diseases reveals novel single-disease and cross-phenotype associations.” Genome Medicine 10(1):97 (2018)
Allele C
OR 1.23
p 1.0e-18
N 28,978
Meta-analysisLarge GWAS
European

type 1 diabetes mellitus

Paul R. Burton et al. “Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.” Nature 447(7145):661-678 (2007)
Allele C
OR 1.34
p 1.0e-11
N 4,901
Large GWAS
European

cerebral cortex area attribute

Grasby KL et al. “The genetic architecture of the human cerebral cortex.” Science (new York, N.y.) 367(6484) (2020)
Allele T
OR 526.55
p 4.0e-11
N 33,992
Large GWAS
European

mathematical ability

Lee JJ et al. “Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.” Nature Genetics 50(8):1112-1121 (2018)
Allele C
OR 0.01
p 1.0e-10
N 564,698
Large GWAS
European

high density lipoprotein cholesterol measurement

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele T
OR 0.01
p 9.0e-10
N 1,320,016
Large GWAS
European
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Research that mentions this SNP (2)

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Polymorphisms in chromosome region 12q13 and their influence on age at onset of type 1 diabetes
AssociationN=1,305Espino-Paisan L. et al.(2011)· Diabetologia

This case-control study examined three SNPs (rs773107, rs2292239, rs10876864) in chromosome region 12q13 for associations with type 1 diabetes age at onset in 444 Spanish diabetic patients and 861 controls. rs773107 and rs2292239 showed significant associations with disease (p ≤0.008 and p=0.03, respectively), with early-onset patients (≤16 years) showing stronger associations than late-onset patients. Subjects with risk genotypes had disease onset 2-5 years earlier than protective allele carriers.

Traits studied:Age at onset of type 1 diabetesType 1 diabetes
PubMedDOIMetascience Observatory
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Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment
ReviewJürgen Brockmöller et al.(2008)· European Journal of Clinical Pharmacology

This comprehensive review article traces the evolution of pharmacogenetics from single-gene analysis to whole-genome approaches. It discusses validated pharmacogenetic biomarkers with clinical impact including CYP2D6, CYP2C9, CYP2C19, TPMT, DPD, VKORC1, UGT1A1, and ADRB1/ADRB2, providing examples of how genetic variants affect drug metabolism and response. The paper emphasizes the importance of integrating pharmacogenetic information into clinical practice and drug development.

Traits studied:5-fluorouracil toxicityanticoagulant responseantidepressant responseasthmaatrial fibrillationbeta-blocker responsebreast cancerclopidogrel responsecolorectal cancerdrug metabolismdrug responsehypertensionirinotecan toxicitylung cancerproton pump inhibitor metabolismrheumatoid arthritisthiopurine toxicitythrombosis risktype 2 diabeteswarfarin sensitivity
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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