rs78218617
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs78218617(C;G) |
| Make rs78218617(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 44380626 |
| Gene | ITGA2B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs78218617 |
| dbSNP (classic) | rs78218617 |
| ClinGen | rs78218617 |
| ebi | rs78218617 |
| HLI | rs78218617 |
| Exac | rs78218617 |
| Gnomad | rs78218617 |
| Varsome | rs78218617 |
| LitVar | rs78218617 |
| Map | rs78218617 |
| PheGenI | rs78218617 |
| Biobank | rs78218617 |
| 1000 genomes | rs78218617 |
| hgdp | rs78218617 |
| ensembl | rs78218617 |
| geneview | rs78218617 |
| scholar | rs78218617 |
| rs78218617 | |
| pharmgkb | rs78218617 |
| gwascentral | rs78218617 |
| openSNP | rs78218617 |
| 23andMe | rs78218617 |
| SNPshot | rs78218617 |
| SNPdbe | rs78218617 |
| MSV3d | rs78218617 |
| GWAS Ctlg | rs78218617 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs78218617(G;G) rs78218617(T;T) |
| Alt | rs78218617(G;G) rs78218617(T;T) |
| Reference | Rs78218617(C;C) |
| Significance | Pathogenic |
| Disease | Glanzmann's thrombasthenia |
| Variation | info |
| Gene | ITGA2B |
| CLNDBN | Glanzmann's thrombasthenia |
| Reversed | 1 |
| HGVS | NC_000017.10:g.42457994G>C |
| CLNSRC | |
| CLNACC | |
[PMID 9798966] A frameshift mutation at Gly975 in the transmembrane domain of GPIIb prevents GPIIb-IIIa expression--analysis of two novel mutations in a kindred with type I glanzmann thrombasthenia.
