rs75427428
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs75427428(C;T) |
| Make rs75427428(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 47274439 |
| Gene | ITGB3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs75427428 |
| dbSNP (classic) | rs75427428 |
| ClinGen | rs75427428 |
| ebi | rs75427428 |
| HLI | rs75427428 |
| Exac | rs75427428 |
| Gnomad | rs75427428 |
| Varsome | rs75427428 |
| LitVar | rs75427428 |
| Map | rs75427428 |
| PheGenI | rs75427428 |
| Biobank | rs75427428 |
| 1000 genomes | rs75427428 |
| hgdp | rs75427428 |
| ensembl | rs75427428 |
| geneview | rs75427428 |
| scholar | rs75427428 |
| rs75427428 | |
| pharmgkb | rs75427428 |
| gwascentral | rs75427428 |
| openSNP | rs75427428 |
| 23andMe | rs75427428 |
| SNPshot | rs75427428 |
| SNPdbe | rs75427428 |
| MSV3d | rs75427428 |
| GWAS Ctlg | rs75427428 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs75427428(T;T) |
| Alt | rs75427428(T;T) |
| Reference | Rs75427428(C;C) |
| Significance | Pathogenic |
| Disease | Glanzmann's thrombasthenia |
| Variation | info |
| Gene | ITGB3 |
| CLNDBN | Glanzmann's thrombasthenia |
| Reversed | 0 |
| HGVS | NC_000017.10:g.45351805C>T |
| CLNSRC | |
| CLNACC | |
[PMID 9450787] Illegitimate transcription: its use for studying genetic abnormalities in lymphoblastoid cells from patients with Glanzmann thrombasthenia.
