rs1126643
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs1126643(C;T) |
| Make rs1126643(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 53051539 |
| Gene | ITGA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1126643 |
| dbSNP (classic) | rs1126643 |
| ClinGen | rs1126643 |
| ebi | rs1126643 |
| HLI | rs1126643 |
| Exac | rs1126643 |
| Gnomad | rs1126643 |
| Varsome | rs1126643 |
| LitVar | rs1126643 |
| Map | rs1126643 |
| PheGenI | rs1126643 |
| Biobank | rs1126643 |
| 1000 genomes | rs1126643 |
| hgdp | rs1126643 |
| ensembl | rs1126643 |
| geneview | rs1126643 |
| scholar | rs1126643 |
| rs1126643 | |
| pharmgkb | rs1126643 |
| gwascentral | rs1126643 |
| openSNP | rs1126643 |
| 23andMe | rs1126643 |
| SNPshot | rs1126643 |
| SNPdbe | rs1126643 |
| MSV3d | rs1126643 |
| GWAS Ctlg | rs1126643 |
| GMAF | 0.3632 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 18830231
] prostate cancer rs3212649 (OR=1.67 (1.07-2.6), P=0.0009) and rs1126643 (OR=1.52 (1.01-2.28), P=0.0088).
[PMID 19786296] Platelet glycoprotein GP VI 13254C allele is an independent risk factor of premature myocardial infarction
[PMID 22133274] Polymorphisms of PAI-1 and platelet GP Ia may associate with impairment of renal function and thrombocytopenia in Puumala hantavirus infection
[PMID 18936436] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
[PMID 22015659] Mean platelet volume and integrin alleles correlate with levels of integrins alpha(IIb)beta(3) and alpha(2)beta(1) in acute coronary syndrome patients and normal subjects.
[PMID 24397542] Genetic polymorphism of ITGA2 C807T can increase the risk of Ischemic Stroke
[PMID 23533563] Novel risk factors for premature peripheral arterial occlusive disease in non-diabetic patients: a case-control study.
[PMID 25901734] Effect of platelet receptor gene polymorphisms on outcomes in ST-elevation myocardial infarction patients after percutaneous coronary intervention
| ClinVar | |
|---|---|
| Risk | rs1126643(T;T) |
| Alt | rs1126643(T;T) |
| Reference | Rs1126643(C;C) |
| Significance | Non-pathogenic |
| Disease | Platelet-type bleeding disorder 9 |
| Variation | info |
| Gene | ITGA2 |
| CLNDBN | Platelet-type bleeding disorder 9 |
| Reversed | 0 |
| HGVS | NC_000005.9:g.52347369C>T |
| CLNSRC | |
| CLNACC | RCV000264523.1, |
[PMID 28871283] GPla Polymorphisms Are Associated with Outcomes in Patients at High Cardiovascular Risk.
