rs1613662

This is a variant in the GP6 gene that changes a proline to an serine.

▶

GWAS Catalog Trait Associations (9)

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

platelet component distribution width

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.08
p 2.0e-143
N 408,112
Large GWAS
European
Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele A
OR 0.07
p 8.0e-45
N 164,433
Large GWAS
European

platelet reactivity efficacy

Downes K et al. “G protein-coupled receptor kinase 5 regulates thrombin signaling in platelets via PAR-1.” Blood Advances 6(7):2319-2330 (2022)
Allele A
OR 0.92
p 5.0e-101
N 1,329
Large GWAS
European

platelet volume

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 G
OR —
p 5.0e-99
N 484,042
Large GWAS
multi-ancestry
Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele G
OR 0.05
p 9.0e-28
N 164,454
Large GWAS
European

platelet glycoprotein VI level

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele G
OR 0.49
p 1.0e-50
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

reticulocyte count

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.03
p 9.0e-24
N 394,642
Large GWAS
European

reticulocyte amount

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.02
p 1.0e-21
N 394,642
Large GWAS
European

mast cell-expressed membrane 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 A
OR 0.06
p 5.0e-14
N 47,745
Large GWAS
European

mitochondrial DNA measurement

Hägg S et al. “Deciphering the genetic and epidemiological landscape of mitochondrial DNA abundance.” Human Genetics 140(6):849-861 (2021)
Allele G
OR 0.02
p 2.0e-12
N 295,150
Large GWAS
European
Chong M et al. “GWAS and ExWAS of blood mitochondrial DNA copy number identifies 71 loci and highlights a potential causal role in dementia.” Elife 11 (2022)
Allele G
OR 0.02
p 4.0e-9
N 395,718
Large GWAS
European, South Asian, African unspecified
▶

ClinVar annotation

Benign★★★☆
5 submitters2 publications

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

View on ClinVar →
▶

Research that mentions this SNP (1)

▶
Brief Report: Single‐nucleotide polymorphisms in VKORC1 are risk factors for systemic lupus erythematosus in Asians
AssociationN=3,739Rachel Kaiser et al.(2013)· Arthritis &amp; Rheumatism

Two SNPs in VKORC1 (rs9934438 and rs9923231) were identified as genetic risk factors for systemic lupus erythematosus (SLE) in Asian populations. In discovery cohort (263 SLE cases, 357 controls), both SNPs showed strong associations (OR=2.40-2.45, p=6.1×10^-9 to 2.4×10^-9), which were confirmed in a larger replication cohort (1496 cases, 993 controls) with OR=1.53-1.54 (p=4.3-5.1×10^-6), and remained significant after ancestry adjustment (OR=1.34, p=0.0029-0.0032).

Traits studied:Deep venous thrombosisSystemic lupus erythematosusThrombosis
PubMedDOIMetascience Observatory

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.

Community Wiki

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

Comments

Sign in to join the discussion.

Loading comments…