rs76562369
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (TAAGT;TAAGT) | 0 | common in clinvar |
| Make rs76562369(-;-) |
| Make rs76562369(-;A) |
| Make rs76562369(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 47290277 |
| Gene | ITGB3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs76562369 |
| dbSNP (classic) | rs76562369 |
| ClinGen | rs76562369 |
| ebi | rs76562369 |
| HLI | rs76562369 |
| Exac | rs76562369 |
| Gnomad | rs76562369 |
| Varsome | rs76562369 |
| LitVar | rs76562369 |
| Map | rs76562369 |
| PheGenI | rs76562369 |
| Biobank | rs76562369 |
| 1000 genomes | rs76562369 |
| hgdp | rs76562369 |
| ensembl | rs76562369 |
| geneview | rs76562369 |
| scholar | rs76562369 |
| rs76562369 | |
| pharmgkb | rs76562369 |
| gwascentral | rs76562369 |
| openSNP | rs76562369 |
| 23andMe | rs76562369 |
| SNPshot | rs76562369 |
| SNPdbe | rs76562369 |
| MSV3d | rs76562369 |
| GWAS Ctlg | rs76562369 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs76562369(T;T) rs76562369(TA;TA) |
| Alt | rs76562369(T;T) rs76562369(TA;TA) |
| Reference | Rs76562369(TAAGT;TAAGT) |
| Significance | Pathogenic |
| Disease | Glanzmann's thrombasthenia |
| Variation | info |
| Gene | ITGB3 |
| CLNDBN | Glanzmann's thrombasthenia |
| Reversed | 0 |
| HGVS | NC_000017.10:g.45367643_45367646delAAGT |
| CLNSRC | |
| CLNACC | |
