rs79657230
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs79657230(C;T) |
| Make rs79657230(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 44374673 |
| Gene | ITGA2B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs79657230 |
| dbSNP (classic) | rs79657230 |
| ClinGen | rs79657230 |
| ebi | rs79657230 |
| HLI | rs79657230 |
| Exac | rs79657230 |
| Gnomad | rs79657230 |
| Varsome | rs79657230 |
| LitVar | rs79657230 |
| Map | rs79657230 |
| PheGenI | rs79657230 |
| Biobank | rs79657230 |
| 1000 genomes | rs79657230 |
| hgdp | rs79657230 |
| ensembl | rs79657230 |
| geneview | rs79657230 |
| scholar | rs79657230 |
| rs79657230 | |
| pharmgkb | rs79657230 |
| gwascentral | rs79657230 |
| openSNP | rs79657230 |
| 23andMe | rs79657230 |
| SNPshot | rs79657230 |
| SNPdbe | rs79657230 |
| MSV3d | rs79657230 |
| GWAS Ctlg | rs79657230 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs79657230(T;T) |
| Alt | rs79657230(T;T) |
| Reference | Rs79657230(C;C) |
| Significance | Pathogenic |
| Disease | Glanzmann's thrombasthenia |
| Variation | info |
| Gene | ITGA2B |
| CLNDBN | Glanzmann's thrombasthenia |
| Reversed | 1 |
| HGVS | NC_000017.10:g.42452041G>A |
| CLNSRC | |
| CLNACC | |
