rs892090

This variant is located in the GP6 gene.

GWAS Catalog Trait Associations (33)

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

platelet component distribution width

Allele G
OR 0.08
p 3.0e-210
N 394,642
Large GWAS
European

level of platelet basic protein in blood

Allele G
OR 0.13
p 5.0e-71
N 47,745
Large GWAS
European

blood protein amount

Allele G
OR 0.06
p 1.0e-59
N 47,745
Large GWAS
European

C-C motif chemokine 13 level

Allele G
OR 0.11
p 5.0e-58
N 47,745
Large GWAS
European

CD63 antigen measurement

Allele G
OR 0.12
p 3.0e-55
N 47,745
Large GWAS
European

sortilin measurement

Allele G
OR 0.10
p 1.0e-47
N 47,745
Large GWAS
European

C-X-C motif chemokine 6 level

Allele G
OR 0.09
p 2.0e-37
N 47,745
Large GWAS
European

reticulocyte count

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.04
p 3.0e-37
N 408,112
Large GWAS
European

TGF-beta 1 level

Allele G
OR 0.10
p 2.0e-36
N 47,745
Large GWAS
European

midkine measurement

Allele G
OR 0.09
p 1.0e-35
N 47,745
Large GWAS
European

ClinVar annotation

Benign★★★
6 submitters2 publications

not specified; not provided; Platelet-type bleeding disorder 11

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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