rs2980875

This is a intron variant variant.

GWAS Catalog Trait Associations (9)

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

cytochrome p450 3a4 measurement

Pietzner M et al. Mapping the proteo-genomic convergence of human diseases. Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.12
p 6.0e-20
N 10,708
Large GWAS
European

protein measurement

Pietzner M et al. Mapping the proteo-genomic convergence of human diseases. Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.11
p 2.0e-17
N 10,708
Large GWAS
European

Hypercholesterolemia

Allele G
OR 1.10
p 8.0e-14
N 50,808
Large GWAS
East Asian

apolipoprotein E measurement

Pietzner M et al. Mapping the proteo-genomic convergence of human diseases. Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.09
p 7.0e-12
N 10,708
Large GWAS
European

high density lipoprotein cholesterol measurement

Hoffmann TJ et al. A large electronic-health-record-based genome-wide study of serum lipids. Nature Genetics 50(3):401-413 (2018)
Allele A
OR
β 0.037
p 2.0e-23
N 94,674
Large GWAS
multi-ancestry

low density lipoprotein cholesterol measurement

Hoffmann TJ et al. A large electronic-health-record-based genome-wide study of serum lipids. Nature Genetics 50(3):401-413 (2018)
Allele A
OR
β 0.059
p 2.0e-36
N 94,674
Large GWAS
multi-ancestry

total cholesterol measurement

Hoffmann TJ et al. A large electronic-health-record-based genome-wide study of serum lipids. Nature Genetics 50(3):401-413 (2018)
Allele A
OR
β 0.071
p 5.0e-54
N 94,674
Large GWAS
multi-ancestry

triglyceride measurement

Hoffmann TJ et al. A large electronic-health-record-based genome-wide study of serum lipids. Nature Genetics 50(3):401-413 (2018)
Allele A
OR
β 0.085
p 5.0e-95
N 94,674
Large GWAS
multi-ancestry

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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