rs61145631

This variant is located in the GP6 gene.

GWAS Catalog Trait Associations (4)

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

angiopoietin-1 measurement

Allele G
OR 0.10
p 9.0e-15
N 47,745
Large GWAS
European

probable carboxypeptidase X1 measurement

Allele G
OR 0.09
p 9.0e-14
N 47,745
Large GWAS
European

level of amyloid-beta precursor protein in blood

Allele G
OR 0.09
p 5.0e-12
N 47,745
Large GWAS
European

trem-like transcript 1 protein measurement

Allele G
OR 0.09
p 7.0e-12
N 47,745
Large GWAS
European

ClinVar annotation

Benign★★★
3 submitters1 publication

not provided; Gastric cancer; Ovarian serous cystadenocarcinoma; Acute myeloid leukemia; Hepatocellular carcinoma; Sarcoma; Malignant lymphoma, large B-cell, diffuse

View on ClinVar →

About GP6

This gene encodes a platelet membrane glycoprotein of the immunoglobulin superfamily. The encoded protein is a receptor for collagen and plays a critical role in collagen-induced platelet aggregation and thrombus formation. The encoded protein forms a complex with the Fc receptor gamma-chain that initiates the platelet activation signaling cascade upon collagen binding. Mutations in this gene are a cause of platelet-type bleeding disorder-11 (BDPLT11). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

View all GP6 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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