rs2545801

This is a upstream gene variant variant.

GWAS Catalog Trait Associations (16)

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

phenylalanine measurement

Karjalainen MK et al. Genome-wide characterization of circulating metabolic biomarkers. Nature 628(8006):130-138 (2024)
Allele T
OR 0.09
p 5.0e-88
N 136,016
Large GWAS
multi-ancestry

superoxide dismutase [Mn], mitochondrial measurement

Allele T
OR 0.61
p 5.0e-36
N 997
Small GWAS
multi-ancestry

histidine measurement

Allele C
OR 12.36
p 4.0e-35
N 80,809
Large GWAS
European

CD63 antigen measurement

Sun BB et al. Genomic atlas of the human plasma proteome. Nature 558(7708):73-79 (2018)
Allele C
OR 0.25
p 6.0e-19
N 3,301
Large GWAS
European

blood protein amount

Allele T
OR 0.19
p 2.0e-17
N 5,368
Large GWAS
European

prolylproline measurement

Allele C
OR 0.23
p 3.0e-15
N 6,136
Large GWAS
European

free cholesterol to total lipids in large VLDL percentage

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 0.02
p 2.0e-14
N 450,015
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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