rs78165611
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs78165611(A;A) |
| Make rs78165611(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 44374449 |
| Gene | ITGA2B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs78165611 |
| dbSNP (classic) | rs78165611 |
| ClinGen | rs78165611 |
| ebi | rs78165611 |
| HLI | rs78165611 |
| Exac | rs78165611 |
| Gnomad | rs78165611 |
| Varsome | rs78165611 |
| LitVar | rs78165611 |
| Map | rs78165611 |
| PheGenI | rs78165611 |
| Biobank | rs78165611 |
| 1000 genomes | rs78165611 |
| hgdp | rs78165611 |
| ensembl | rs78165611 |
| geneview | rs78165611 |
| scholar | rs78165611 |
| rs78165611 | |
| pharmgkb | rs78165611 |
| gwascentral | rs78165611 |
| openSNP | rs78165611 |
| 23andMe | rs78165611 |
| SNPshot | rs78165611 |
| SNPdbe | rs78165611 |
| MSV3d | rs78165611 |
| GWAS Ctlg | rs78165611 |
| GMAF | 0.0009183 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs78165611(A;A) rs78165611(T;T) |
| Alt | rs78165611(A;A) rs78165611(T;T) |
| Reference | Rs78165611(G;G) |
| Significance | Pathogenic |
| Disease | Glanzmann thrombasthenia Platelet-type bleeding disorder 16 |
| Variation | info |
| Gene | ITGA2B |
| CLNDBN | Glanzmann thrombasthenia Platelet-type bleeding disorder 16 |
| Reversed | 1 |
| HGVS | NC_000017.10:g.42451817C>T |
| CLNSRC | |
| CLNACC | RCV000477811.1, |
[PMID 15099289] Triple heterozygosity in the integrin alphaIIb subunit in a patient with Glanzmann's thrombasthenia.
