rs763330792
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs763330792(G;T) |
| Make rs763330792(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 17 |
| Position | 44375719 |
| Gene | ITGA2B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs763330792 |
| dbSNP (classic) | rs763330792 |
| ClinGen | rs763330792 |
| ebi | rs763330792 |
| HLI | rs763330792 |
| Exac | rs763330792 |
| Gnomad | rs763330792 |
| Varsome | rs763330792 |
| LitVar | rs763330792 |
| Map | rs763330792 |
| PheGenI | rs763330792 |
| Biobank | rs763330792 |
| 1000 genomes | rs763330792 |
| hgdp | rs763330792 |
| ensembl | rs763330792 |
| geneview | rs763330792 |
| scholar | rs763330792 |
| rs763330792 | |
| pharmgkb | rs763330792 |
| gwascentral | rs763330792 |
| openSNP | rs763330792 |
| 23andMe | rs763330792 |
| SNPshot | rs763330792 |
| SNPdbe | rs763330792 |
| MSV3d | rs763330792 |
| GWAS Ctlg | rs763330792 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs763330792(C;C) rs763330792(T;T) |
| Alt | rs763330792(C;C) rs763330792(T;T) |
| Reference | Rs763330792(G;G) |
| Significance | Pathogenic |
| Disease | Glanzmann thrombasthenia |
| Variation | info |
| Gene | ITGA2B |
| CLNDBN | Glanzmann thrombasthenia |
| Reversed | 0 |
| HGVS | NC_000017.10:g.42453087G>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000003027.2, |
