rs80277041
From SNPedia
| Glanzmann's thrombasthenia |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 3 | Glanzmann's thromboasthenia |
| (C;G) | 2 | Carrier of a Glanzmann's thromboasthenia allele |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 44379689 |
| Gene | ITGA2B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80277041 |
| dbSNP (classic) | rs80277041 |
| ClinGen | rs80277041 |
| ebi | rs80277041 |
| HLI | rs80277041 |
| Exac | rs80277041 |
| Gnomad | rs80277041 |
| Varsome | rs80277041 |
| LitVar | rs80277041 |
| Map | rs80277041 |
| PheGenI | rs80277041 |
| Biobank | rs80277041 |
| 1000 genomes | rs80277041 |
| hgdp | rs80277041 |
| ensembl | rs80277041 |
| geneview | rs80277041 |
| scholar | rs80277041 |
| rs80277041 | |
| pharmgkb | rs80277041 |
| gwascentral | rs80277041 |
| openSNP | rs80277041 |
| 23andMe | rs80277041 |
| SNPshot | rs80277041 |
| SNPdbe | rs80277041 |
| MSV3d | rs80277041 |
| GWAS Ctlg | rs80277041 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | Rs80277041(C;C) |
| Alt | Rs80277041(C;C) |
| Reference | Rs80277041(G;G) |
| Significance | Pathogenic |
| Disease | Glanzmann thrombasthenia |
| Variation | info |
| Gene | ITGA2B |
| CLNDBN | Glanzmann thrombasthenia |
| Reversed | 1 |
| HGVS | NC_000017.10:g.42457057C>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000003037.3, |
