rs12493830

This is a intergenic variant variant.

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GWAS Catalog Trait Associations (15)

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

CD5 measurement

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)
Allele C
OR 0.37
p 8.0e-93
N 5,367
Large GWAS
European

stabilin-2 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.07
p 1.0e-48
N 47,745
Large GWAS
European

intercellular adhesion molecule 2 measurement

Kalnapenkis A et al. “Genetic determinants of plasma protein levels in the Estonian population.” Scientific Reports 14(1):7694 (2024)
Allele C
OR 0.69
p 4.0e-30
N 496
Small GWAS
European

vascular endothelial growth factor receptor 3 level

Kalnapenkis A et al. “Genetic determinants of plasma protein levels in the Estonian population.” Scientific Reports 14(1):7694 (2024)
Allele C
OR 0.52
p 1.0e-24
N 488
Small GWAS
European

ficolin-2 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.04
p 4.0e-19
N 47,745
Large GWAS
European

HDL particle size

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-17
N 136,016
Large GWAS
multi-ancestry

triglycerides in small HDL 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 0.02
p 6.0e-16
N 450,015
Large GWAS
multi-ancestry

blood protein amount

Hillary RF et al. “Genome and epigenome wide studies of neurological protein biomarkers in the Lothian Birth Cohort 1936.” Nature Communications 10(1):3160 (2019)
Allele C
OR 0.43
p 1.0e-14
N 750
Small GWAS
European

free cholesterol 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 0.03
p 1.0e-13
N 136,016
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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