rs3002417

This is a regulatory region variant variant.

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GWAS Catalog Trait Associations (8)

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

sphingosine kinase 1 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 0.11
p 9.0e-25
N 10,708
Large GWAS
European

brain-derived neurotrophic factor 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 0.09
p 2.0e-15
N 10,708
Large GWAS
European

proheparin-binding EGF-like growth factor level

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.09
p 2.0e-15
N 10,708
Large GWAS
European

toll/interleukin-1 receptor domain-containing adapter 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 0.09
p 5.0e-15
N 10,708
Large GWAS
European

venous thromboembolism

Klarin D et al. “Genome-wide association analysis of venous thromboembolism identifies new risk loci and genetic overlap with arterial vascular disease.” Nature Genetics 51(11):1574-1579 (2019)
Allele T
OR 1.06
p 2.0e-13
N 650,119
Large GWAS
multi-ancestry
Zhou W et al. “Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.” Cell Genomics 2(10):100192 (2022)
Allele T
OR 0.06
p 6.0e-12
N 1,063,277
Meta-analysisLarge GWAS
multi-ancestry

platelet-derived growth factor subunit A 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 0.08
p 3.0e-13
N 10,708
Large GWAS
European

aflatoxin B1 aldehyde reductase member 2 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 0.08
p 7.0e-13
N 10,708
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 0.09
p 2.0e-13
N 10,708
Large GWAS
European

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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