rs2731673

This is a regulatory region variant variant.

GWAS Catalog Trait Associations (16)

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

histidine measurement

Karjalainen MK et al. Genome-wide characterization of circulating metabolic biomarkers. Nature 628(8006):130-138 (2024)
Allele T
OR 0.07
p 4.0e-58
N 136,016
Large GWAS
multi-ancestry

inter-alpha-trypsin inhibitor heavy chain h4 measurement

Allele C
OR 0.09
p 1.0e-54
N 47,745
Large GWAS
European

alpha-2-antiplasmin measurement

Allele T
OR 0.45
p 7.0e-37
N 1,256
Large GWAS
multi-ancestry

transmembrane protein 87B measurement

Sun BB et al. Genomic atlas of the human plasma proteome. Nature 558(7708):73-79 (2018)
Allele C
OR
β 0.330
p 9.0e-34
N 3,301
Large GWAS
European

osteopontin measurement

Allele C
OR 0.18
p 4.0e-25
N 4,897
Large GWAS
European

tRNA (guanine-N(7)-)-methyltransferase measurement

Sun BB et al. Genomic atlas of the human plasma proteome. Nature 558(7708):73-79 (2018)
Allele C
OR 0.28
p 3.0e-23
N 3,301
Large GWAS
European

Kunitz-type protease inhibitor 2 measurement

Allele C
OR 0.06
p 2.0e-22
N 47,745
Large GWAS
European

UDP-glucuronic acid decarboxylase 1 measurement

Allele C
OR 0.06
p 4.0e-19
N 47,745
Large GWAS
European

neurexin-1 measurement

Sun BB et al. Genomic atlas of the human plasma proteome. Nature 558(7708):73-79 (2018)
Allele C
OR
β 0.240
p 6.0e-18
N 3,301
Large GWAS
European

vascular endothelial growth factor D measurement

Allele T
OR
β 0.082
p 5.0e-17
N 21,758
Large GWAS
European

Research that mentions this SNP (1)

An osteopontin (SPP1) polymorphism is associated with systemic lupus erythematosus
AssociationN=4,897Forton AC et al.(2002)· Human Mutation

Genome-wide association study of osteopontin (OPN) levels in 4,897 European chronic kidney disease patients identified 3 genome-wide significant loci (p < 5.0E-08). Two loci replicated in the Young Finns Study: rs10011284 upstream of SPP1 (encoding OPN; beta = -0.10, p = 8.59e-11) and rs4253311 in KLKB1 (encoding prekallikrein; beta = -0.14, p = 5.29e-20). A third locus rs2731673 near F12/GRK6 did not replicate. Rare variant testing identified SPP1 as significant (p = 2.5E-8), implicating OPN genetics in chronic kidney disease pathophysiology.

Traits studied:Chronic kidney diseaseOsteopontin serum levels

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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