rs2731672

This is a intron variant variant.

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GWAS Catalog Trait Associations (14)

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

phenylalanine measurement

Lotta LA et al. “A cross-platform approach identifies genetic regulators of human metabolism and health.” Nature Genetics 53(1):54-64 (2021)
Allele C
OR 12.29
p 1.0e-34
N 84,297
Large GWAS
European
Kettunen J et al. “Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA.” Nature Communications 7:11122 (2016)
Allele C
OR 0.09
p 4.0e-16
N 22,663
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 T
OR 0.17
p 2.0e-31
N 10,708
Large GWAS
European

blood coagulation trait

Houlihan LM et al. “Common variants of large effect in F12, KNG1, and HRG are associated with activated partial thromboplastin time.” American Journal of Human Genetics 86(4):626-31 (2010)
Allele A
OR 0.45
p 2.0e-30
N 1,431
Large GWAS
European

ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 measurement

Png G et al. “Mapping the serum proteome to neurological diseases using whole genome sequencing.” Nature Communications 12(1):7042 (2021)
Allele T
OR 0.32
p 6.0e-26
N 2,893
Large GWAS
European

X-12038-to-bradykinin, des-arg 9 ratio

Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele T
OR 0.18
p 6.0e-26
N 2,932
Large GWAS
European

glycoprotein 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 5.0e-24
N 450,015
Large GWAS
multi-ancestry

leucine measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.04
p 2.0e-18
N 136,016
Large GWAS
multi-ancestry

level of protocadherin-7 in blood

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 0.06
p 1.0e-17
N 47,745
Large GWAS
European

hepatocyte growth factor activator level

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 0.05
p 3.0e-15
N 47,745
Large GWAS
European

phospholipids:total lipids ratio

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 3.0e-15
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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