rs77961246
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs77961246(C;C) |
| Make rs77961246(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 44377772 |
| Gene | ITGA2B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs77961246 |
| dbSNP (classic) | rs77961246 |
| ClinGen | rs77961246 |
| ebi | rs77961246 |
| HLI | rs77961246 |
| Exac | rs77961246 |
| Gnomad | rs77961246 |
| Varsome | rs77961246 |
| LitVar | rs77961246 |
| Map | rs77961246 |
| PheGenI | rs77961246 |
| Biobank | rs77961246 |
| 1000 genomes | rs77961246 |
| hgdp | rs77961246 |
| ensembl | rs77961246 |
| geneview | rs77961246 |
| scholar | rs77961246 |
| rs77961246 | |
| pharmgkb | rs77961246 |
| gwascentral | rs77961246 |
| openSNP | rs77961246 |
| 23andMe | rs77961246 |
| SNPshot | rs77961246 |
| SNPdbe | rs77961246 |
| MSV3d | rs77961246 |
| GWAS Ctlg | rs77961246 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs77961246(C;C) |
| Alt | rs77961246(C;C) |
| Reference | Rs77961246(T;T) |
| Significance | Pathogenic |
| Disease | Glanzmann's thrombasthenia |
| Variation | info |
| Gene | ITGA2B |
| CLNDBN | Glanzmann's thrombasthenia |
| Reversed | 1 |
| HGVS | NC_000017.10:g.42455140A>G |
| CLNSRC | |
| CLNACC | |
[PMID 12083483] Glanzmann's thrombasthenia: identification of 19 new mutations in 30 patients.
