rs2250522

GWAS Catalog Trait Associations (3)

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

serine palmitoyltransferase 1 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 0.10
p 7.0e-14
N 10,708
Large GWAS
European

systolic blood pressure

Plotnikov D et al. High Blood Pressure and Intraocular Pressure: A Mendelian Randomization Study. Investigative Ophthalmology & Visual Science 63(6):29 (2022)
Allele A
OR 0.25
p 7.0e-12
N 526,001
Large GWAS
European

alcohol consumption quality

Saunders GRB et al. Genetic diversity fuels gene discovery for tobacco and alcohol use. Nature 612(7941):720-724 (2022)
Allele A
OR 0.00
p 5.0e-9
N 2,965,643
Large GWAS
European, East Asian, Hispanic or Latin American, African unspecified

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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