rs80002943
From SNPedia
| Glanzmann's thrombasthenia |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 2 | Carrier of a Glanzmann's thromboasthenia allele |
| (T;T) | 3 | Glanzmann's thromboasthenia |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 44374732 |
| Gene | ITGA2B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80002943 |
| dbSNP (classic) | rs80002943 |
| ClinGen | rs80002943 |
| ebi | rs80002943 |
| HLI | rs80002943 |
| Exac | rs80002943 |
| Gnomad | rs80002943 |
| Varsome | rs80002943 |
| LitVar | rs80002943 |
| Map | rs80002943 |
| PheGenI | rs80002943 |
| Biobank | rs80002943 |
| 1000 genomes | rs80002943 |
| hgdp | rs80002943 |
| ensembl | rs80002943 |
| geneview | rs80002943 |
| scholar | rs80002943 |
| rs80002943 | |
| pharmgkb | rs80002943 |
| gwascentral | rs80002943 |
| openSNP | rs80002943 |
| 23andMe | rs80002943 |
| SNPshot | rs80002943 |
| SNPdbe | rs80002943 |
| MSV3d | rs80002943 |
| GWAS Ctlg | rs80002943 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | Rs80002943(T;T) |
| Alt | Rs80002943(T;T) |
| Reference | Rs80002943(C;C) |
| Significance | Pathogenic |
| Disease | Glanzmann thrombasthenia |
| Variation | info |
| Gene | ITGA2B |
| CLNDBN | Glanzmann thrombasthenia |
| Reversed | 1 |
| HGVS | NC_000017.10:g.42452100G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000003036.3, |
