rs1671152

This is a variant in the GP6 gene that changes a asparagine to an histidine.

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GWAS Catalog Trait Associations (63)

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

interstitial collagenase measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.10
p 2.0e-48
N 47,745
Large GWAS
European

biglycan measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.10
p 1.0e-38
N 47,745
Large GWAS
European

C-C motif chemokine 14 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.08
p 5.0e-33
N 47,745
Large GWAS
European

interleukin-8 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.09
p 4.0e-32
N 47,745
Large GWAS
European

C-C motif chemokine 2 level

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.08
p 4.0e-27
N 47,745
Large GWAS
European

proteinase-activated receptor 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 G
OR 0.07
p 1.0e-19
N 47,745
Large GWAS
European

junctional adhesion molecule C measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.07
p 2.0e-19
N 47,745
Large GWAS
European

platelet quantity

Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)
Allele G
OR 0.10
p 5.0e-18
N 29,658
Large GWAS
European

level of plexin-A4 in blood serum

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.06
p 5.0e-16
N 47,745
Large GWAS
European
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ClinVar annotation

Benign★★★☆
6 submitters2 publications

Platelet-type bleeding disorder 11 (BDPLT11); not specified

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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