rs74458693
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs74458693(A;A) |
| Make rs74458693(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 47291088 |
| Gene | ITGB3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs74458693 |
| dbSNP (classic) | rs74458693 |
| ClinGen | rs74458693 |
| ebi | rs74458693 |
| HLI | rs74458693 |
| Exac | rs74458693 |
| Gnomad | rs74458693 |
| Varsome | rs74458693 |
| LitVar | rs74458693 |
| Map | rs74458693 |
| PheGenI | rs74458693 |
| Biobank | rs74458693 |
| 1000 genomes | rs74458693 |
| hgdp | rs74458693 |
| ensembl | rs74458693 |
| geneview | rs74458693 |
| scholar | rs74458693 |
| rs74458693 | |
| pharmgkb | rs74458693 |
| gwascentral | rs74458693 |
| openSNP | rs74458693 |
| 23andMe | rs74458693 |
| SNPshot | rs74458693 |
| SNPdbe | rs74458693 |
| MSV3d | rs74458693 |
| GWAS Ctlg | rs74458693 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs74458693(A;A) |
| Alt | rs74458693(A;A) |
| Reference | Rs74458693(G;G) |
| Significance | Pathogenic |
| Disease | Glanzmann's thrombasthenia |
| Variation | info |
| Gene | ITGB3 |
| CLNDBN | Glanzmann's thrombasthenia |
| Reversed | 0 |
| HGVS | NC_000017.10:g.45368454G>A |
| CLNSRC | |
| CLNACC | |
[PMID 8878424
] Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection.
