rs1654425

This variant is located in the GP6 gene.

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GWAS Catalog Trait Associations (80)

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

blood protein amount

Emilsson V et al. “Co-regulatory networks of human serum proteins link genetics to disease.” Science (new York, N.y.) 361(6404):769-773 (2018)
Allele C
OR 0.82
p 7.0e-150
N 3,200
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.09
p 9.0e-39
N 47,745
Large GWAS
European

platelet volume

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.06
p 5.0e-142
N 394,642
Large GWAS
European
Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele C
OR 0.05
p 1.0e-99
N 460,935
Large GWAS
European
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.05
p 7.0e-69
N 408,112
Large GWAS
European

platelet glycoprotein VI 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 0.41
p 3.0e-137
N 10,708
Large GWAS
European

angiopoietin-1 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.16
p 2.0e-102
N 47,745
Large GWAS
European

platelet-derived growth factor subunit A measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.15
p 2.0e-89
N 47,745
Large GWAS
European

probable carboxypeptidase X1 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.14
p 6.0e-86
N 47,745
Large GWAS
European

dickkopf‐related protein 1 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.14
p 5.0e-82
N 47,745
Large GWAS
European

level of amyloid-beta precursor protein in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.14
p 3.0e-78
N 47,745
Large GWAS
European

SPARC measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.14
p 9.0e-77
N 47,745
Large GWAS
European

plasminogen activator inhibitor 1 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.14
p 3.0e-76
N 47,745
Large GWAS
European
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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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