rs2972147

GWAS Catalog Trait Associations (12)

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

LDL particle size

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.03
p 2.0e-38
N 450,015
Large GWAS
multi-ancestry

leucine measurement

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.03
p 4.0e-35
N 450,015
Large GWAS
multi-ancestry

phospholipids in very large HDL measurement

Karjalainen MK et al. Genome-wide characterization of circulating metabolic biomarkers. Nature 628(8006):130-138 (2024)
Allele T
OR 0.04
p 4.0e-24
N 136,016
Large GWAS
multi-ancestry

free cholesterol in large HDL measurement

Karjalainen MK et al. Genome-wide characterization of circulating metabolic biomarkers. Nature 628(8006):130-138 (2024)
Allele T
OR 0.04
p 3.0e-21
N 136,016
Large GWAS
multi-ancestry

total cholesterol change measurement, high density lipoprotein cholesterol measurement

Karjalainen MK et al. Genome-wide characterization of circulating metabolic biomarkers. Nature 628(8006):130-138 (2024)
Allele T
OR 0.04
p 8.0e-21
N 136,016
Large GWAS
multi-ancestry

HDL particle size

Karjalainen MK et al. Genome-wide characterization of circulating metabolic biomarkers. Nature 628(8006):130-138 (2024)
Allele T
OR 0.04
p 1.0e-19
N 136,016
Large GWAS
multi-ancestry

triglycerides:total lipids ratio, high density lipoprotein cholesterol measurement

Karjalainen MK et al. Genome-wide characterization of circulating metabolic biomarkers. Nature 628(8006):130-138 (2024)
Allele T
OR 0.04
p 4.0e-18
N 136,016
Large GWAS
multi-ancestry

serum albumin amount

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 0.02
p 4.0e-14
N 542,276
Major Consortium StudyLarge GWAS
multi-ancestry

erythrocyte volume

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.02
p 5.0e-14
N 408,112
Large GWAS
European

cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement

Karjalainen MK et al. Genome-wide characterization of circulating metabolic biomarkers. Nature 628(8006):130-138 (2024)
Allele T
OR 0.03
p 2.0e-13
N 136,016
Large GWAS
multi-ancestry

Research that mentions this SNP (1)

The impact of newly identified loci on coronary heart disease, stroke and total mortality in the MORGAM prospective cohorts
AssociationN=33,282Juha Karvanen et al.(2009)· Genetic Epidemiology

Prospective cohort study of 33,282 individuals from the MORGAM Project investigating SNPs from recent GWAS in relation to incident coronary heart disease (CHD), stroke, and total mortality. SNP rs1333049 (9p21.3) was associated with both CHD (HR=1.20, 95% CI 1.08-1.34) and stroke, rs11670734 (19q12) with total mortality and stroke, and several SNPs associated with lipid levels and blood pressure.

Traits studied:Blood pressureCoronary heart diseaseHDL cholesterolMyocardial infarctionNon-HDL cholesterolStrokeTotal mortality

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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