rs79208797
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs79208797(C;C) |
| Make rs79208797(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 47286310 |
| Gene | ITGB3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs79208797 |
| dbSNP (classic) | rs79208797 |
| ClinGen | rs79208797 |
| ebi | rs79208797 |
| HLI | rs79208797 |
| Exac | rs79208797 |
| Gnomad | rs79208797 |
| Varsome | rs79208797 |
| LitVar | rs79208797 |
| Map | rs79208797 |
| PheGenI | rs79208797 |
| Biobank | rs79208797 |
| 1000 genomes | rs79208797 |
| hgdp | rs79208797 |
| ensembl | rs79208797 |
| geneview | rs79208797 |
| scholar | rs79208797 |
| rs79208797 | |
| pharmgkb | rs79208797 |
| gwascentral | rs79208797 |
| openSNP | rs79208797 |
| 23andMe | rs79208797 |
| SNPshot | rs79208797 |
| SNPdbe | rs79208797 |
| MSV3d | rs79208797 |
| GWAS Ctlg | rs79208797 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs79208797(C;C) |
| Alt | rs79208797(C;C) |
| Reference | Rs79208797(T;T) |
| Significance | Pathogenic |
| Disease | Glanzmann's thrombasthenia |
| Variation | info |
| Gene | ITGB3 |
| CLNDBN | Glanzmann's thrombasthenia |
| Reversed | 0 |
| HGVS | NC_000017.10:g.45363676T>C |
| CLNSRC | |
| CLNACC | |
[PMID 11897046] A novel 196Leu to Pro substitution in the beta3 subunit of the alphaIIbbeta3 integrin in a patient with a variant form of Glanzmann thrombasthenia.
