rs780017389
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (GTCTAC;GTCTAC) | 0 | common in clinvar |
| Make rs780017389(-;-) |
| Make rs780017389(-;GTCTAC) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 17 |
| Position | 44380901 |
| Gene | ITGA2B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs780017389 |
| dbSNP (classic) | rs780017389 |
| ClinGen | rs780017389 |
| ebi | rs780017389 |
| HLI | rs780017389 |
| Exac | rs780017389 |
| Gnomad | rs780017389 |
| Varsome | rs780017389 |
| LitVar | rs780017389 |
| Map | rs780017389 |
| PheGenI | rs780017389 |
| Biobank | rs780017389 |
| 1000 genomes | rs780017389 |
| hgdp | rs780017389 |
| ensembl | rs780017389 |
| geneview | rs780017389 |
| scholar | rs780017389 |
| rs780017389 | |
| pharmgkb | rs780017389 |
| gwascentral | rs780017389 |
| openSNP | rs780017389 |
| 23andMe | rs780017389 |
| SNPshot | rs780017389 |
| SNPdbe | rs780017389 |
| MSV3d | rs780017389 |
| GWAS Ctlg | rs780017389 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs780017389(-;-) |
| Alt | rs780017389(-;-) |
| Reference | Rs780017389(GTCTAC;GTCTAC) |
| Significance | Pathogenic |
| Disease | Glanzmann thrombasthenia |
| Variation | info |
| Gene | ITGA2B |
| CLNDBN | Glanzmann thrombasthenia |
| Reversed | 0 |
| HGVS | NC_000017.10:g.42458269_42458274delGTCTAC |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000003032.3, |
