rs74475415
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs74475415(A;C) |
| Make rs74475415(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 44376323 |
| Gene | ITGA2B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs74475415 |
| dbSNP (classic) | rs74475415 |
| ClinGen | rs74475415 |
| ebi | rs74475415 |
| HLI | rs74475415 |
| Exac | rs74475415 |
| Gnomad | rs74475415 |
| Varsome | rs74475415 |
| LitVar | rs74475415 |
| Map | rs74475415 |
| PheGenI | rs74475415 |
| Biobank | rs74475415 |
| 1000 genomes | rs74475415 |
| hgdp | rs74475415 |
| ensembl | rs74475415 |
| geneview | rs74475415 |
| scholar | rs74475415 |
| rs74475415 | |
| pharmgkb | rs74475415 |
| gwascentral | rs74475415 |
| openSNP | rs74475415 |
| 23andMe | rs74475415 |
| SNPshot | rs74475415 |
| SNPdbe | rs74475415 |
| MSV3d | rs74475415 |
| GWAS Ctlg | rs74475415 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs74475415(C;C) |
| Alt | rs74475415(C;C) |
| Reference | Rs74475415(A;A) |
| Significance | Probable-Pathogenic |
| Disease | Glanzmann thrombasthenia |
| Variation | info |
| Gene | ITGA2B |
| CLNDBN | Glanzmann thrombasthenia |
| Reversed | 1 |
| HGVS | NC_000017.10:g.42453691T>G |
| CLNSRC | |
| CLNACC | RCV000490428.1, |
[PMID 9763559] A Gln747-->Pro substitution in the IIb subunit is responsible for a moderate IIbbeta3 deficiency in Glanzmann thrombasthenia.
