rs974819

This is a intron variant variant.

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GWAS Catalog Trait Associations (6)

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

coronary artery disease

van der Harst P et al. “Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.” Circulation Research 122(3):433-443 (2018)
Allele T
OR 0.07
p 6.0e-29
N 250,736
Large GWAS
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.06
p 3.0e-15
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry
“A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.” Nature Genetics 43(4):339-44 (2011)
Allele T
OR 1.07
p 2.0e-9
N 30,482
Large GWAS
multi-ancestry

coronary atherosclerosis

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.05
p 2.0e-17
N 602,192
Major Consortium StudyLarge GWAS
multi-ancestry

drug use measurement, coronary artery disease

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.07
p 1.0e-15
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry

heart disease

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.05
p 9.0e-15
N 610,583
Major Consortium StudyLarge GWAS
multi-ancestry

carotid artery thickness

Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)
Allele T
OR 0.03
p 1.0e-10
N 568,836
Large GWAS
European

pulse pressure measurement

Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)
Allele T
OR 0.11
p 2.0e-8
N 810,865
Meta-analysisLarge GWAS
European
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.01
p 2.0e-8
N 506,308
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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ABCA1 variants rs2230806 (R219K), rs4149313 (M8831I), and rs9282541 (R230C) are associated with susceptibility to coronary heart disease
AssociationN=972Fangfang Wang et al.(2019)· Journal of Clinical Laboratory Analysis

A case-control study of 484 Chinese Han CHD patients and 488 controls found that ABCA1 variants rs2230806 (R219K), rs4149313 (M8831I), and rs9282541 (R230C) are significantly associated with coronary heart disease susceptibility. rs2230806 and rs4149313 showed protective effects (OR 0.594-0.816 and OR 0.495 respectively), while rs9282541 T allele conferred increased risk (OR 2.130).

Traits studied:Coronary heart diseaseHDL cholesterolLDL cholesterolTotal cholesterolTriglycerides
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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