rs9332701

This variant is located in the F5 gene.

▶

GWAS Catalog Trait Associations (10)

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

guanylyl cyclase-activating protein 1 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.65
p 3.0e-89
N 10,708
Large GWAS
European

coagulation factor V amount

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.67
p 8.0e-88
N 10,708
Large GWAS
European
Suhre K et al. “Connecting genetic risk to disease end points through the human blood plasma proteome.” Nature Communications 8:14357 (2017)
Allele A
OR 1.17
p 1.0e-23
N 997
Small GWAS
multi-ancestry

solute carrier family 22 member 16 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.46
p 6.0e-42
N 10,708
Large GWAS
European

torsin-1A-interacting protein 1 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.38
p 1.0e-28
N 10,708
Large GWAS
European

cytochrome c oxidase subunit 6C measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.36
p 6.0e-27
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 A
OR 0.34
p 6.0e-24
N 10,708
Large GWAS
European

surfeit locus protein 1 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.33
p 2.0e-22
N 10,708
Large GWAS
European

cadherin-7 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele G
OR —
β 0.420
p 9.0e-14
N 3,301
Large GWAS
European

EH domain-binding protein 1 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.24
p 4.0e-13
N 10,708
Large GWAS
European

T-cell surface glycoprotein CD3 epsilon chain measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.22
p 1.0e-11
N 10,708
Large GWAS
European
▶

ClinVar annotation

Likely Benign★★★☆
5 submitters3 publications

not specified; Thrombophilia due to activated protein C resistance; Budd-Chiari syndrome; Factor V deficiency; Congenital factor V deficiency; not provided; Thrombophilia due to thrombin defect

View on ClinVar →

About F5

This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008]

View all F5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…