rs9501393

This is a coding sequence variant variant in the CYP21A1P gene.

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GWAS Catalog Trait Associations (24)

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

serine/threonine-protein kinase PAK 3 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele C
OR 0.25
p 2.0e-37
N 10,708
Large GWAS
European

endothelin-converting enzyme 1 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele C
OR 0.24
p 4.0e-33
N 10,708
Large GWAS
European

tyrosine-protein kinase ZAP-70 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele C
OR 0.23
p 2.0e-32
N 10,708
Large GWAS
European

macrophage-stimulating protein receptor measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele C
OR 0.23
p 4.0e-32
N 10,708
Large GWAS
European

fractalkine measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele C
OR 0.22
p 8.0e-32
N 10,708
Large GWAS
European

platelet endothelial cell adhesion molecule measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele C
OR 0.23
p 2.0e-31
N 10,708
Large GWAS
European

cytochrome c oxidase assembly factor 3 homolog, mitochondrial measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele C
OR 0.23
p 2.0e-30
N 10,708
Large GWAS
European

ectonucleoside triphosphate diphosphohydrolase 3 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele C
OR 0.22
p 1.0e-28
N 10,708
Large GWAS
European

calcium/calmodulin-dependent protein kinase type 1D measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele C
OR 0.21
p 2.0e-27
N 10,708
Large GWAS
European

layilin measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele C
OR 0.21
p 5.0e-27
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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