rs5917
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | None | |
| (A;G) | None | |
| (G;G) | 0 | common |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 47284587 |
| Gene | ITGB3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs5917 |
| dbSNP (classic) | rs5917 |
| ClinGen | rs5917 |
| ebi | rs5917 |
| HLI | rs5917 |
| Exac | rs5917 |
| Gnomad | rs5917 |
| Varsome | rs5917 |
| LitVar | rs5917 |
| Map | rs5917 |
| PheGenI | rs5917 |
| Biobank | rs5917 |
| 1000 genomes | rs5917 |
| hgdp | rs5917 |
| ensembl | rs5917 |
| geneview | rs5917 |
| scholar | rs5917 |
| rs5917 | |
| pharmgkb | rs5917 |
| gwascentral | rs5917 |
| openSNP | rs5917 |
| 23andMe | rs5917 |
| SNPshot | rs5917 |
| SNPdbe | rs5917 |
| MSV3d | rs5917 |
| GWAS Ctlg | rs5917 |
| GMAF | 0.003673 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | Rs5917(A;A) |
| Alt | Rs5917(A;A) |
| Reference | Rs5917(G;G) |
| Significance | Pathogenic |
| Disease | PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM Thrombocytopenia Posttransfusion purpura |
| Variation | info |
| Gene | ITGB3 |
| CLNDBN | PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM Thrombocytopenia, neonatal alloimmune Posttransfusion purpura |
| Reversed | 0 |
| HGVS | NC_000017.10:g.45361953G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000014516.2, RCV000014517.25, RCV000014518.25, |
