rs76811038
From SNPedia
| Glanzmann's thrombasthenia |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 3 | Glanzmann's thromboasthenia |
| (C;T) | 2 | Carrier of a Glanzmann's thromboasthenia allele |
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 44379780 |
| Gene | ITGA2B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs76811038 |
| dbSNP (classic) | rs76811038 |
| ClinGen | rs76811038 |
| ebi | rs76811038 |
| HLI | rs76811038 |
| Exac | rs76811038 |
| Gnomad | rs76811038 |
| Varsome | rs76811038 |
| LitVar | rs76811038 |
| Map | rs76811038 |
| PheGenI | rs76811038 |
| Biobank | rs76811038 |
| 1000 genomes | rs76811038 |
| hgdp | rs76811038 |
| ensembl | rs76811038 |
| geneview | rs76811038 |
| scholar | rs76811038 |
| rs76811038 | |
| pharmgkb | rs76811038 |
| gwascentral | rs76811038 |
| openSNP | rs76811038 |
| 23andMe | rs76811038 |
| SNPshot | rs76811038 |
| SNPdbe | rs76811038 |
| MSV3d | rs76811038 |
| GWAS Ctlg | rs76811038 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | Rs76811038(C;C) |
| Alt | Rs76811038(C;C) |
| Reference | Rs76811038(T;T) |
| Significance | Pathogenic |
| Disease | Glanzmann thrombasthenia |
| Variation | info |
| Gene | ITGA2B |
| CLNDBN | Glanzmann thrombasthenia |
| Reversed | 1 |
| HGVS | NC_000017.10:g.42457148A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000003034.3, RCV000198077.1, |
[PMID 9734640] Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann's thrombasthenia.
[PMID 9920835] Molecular genetic analysis of a compound heterozygote for the glycoprotein (GP) IIb gene associated with Glanzmann's thrombasthenia: disruption of the 674-687 disulfide bridge in GPIIb prevents surface exposure of GPIIb-IIIa complexes.
