rs398122372
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs398122372(C;C) |
| Make rs398122372(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 47307581 |
| Gene | ITGB3, THCAT158 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs398122372 |
| dbSNP (classic) | rs398122372 |
| ClinGen | rs398122372 |
| ebi | rs398122372 |
| HLI | rs398122372 |
| Exac | rs398122372 |
| Gnomad | rs398122372 |
| Varsome | rs398122372 |
| LitVar | rs398122372 |
| Map | rs398122372 |
| PheGenI | rs398122372 |
| Biobank | rs398122372 |
| 1000 genomes | rs398122372 |
| hgdp | rs398122372 |
| ensembl | rs398122372 |
| geneview | rs398122372 |
| scholar | rs398122372 |
| rs398122372 | |
| pharmgkb | rs398122372 |
| gwascentral | rs398122372 |
| openSNP | rs398122372 |
| 23andMe | rs398122372 |
| SNPshot | rs398122372 |
| SNPdbe | rs398122372 |
| MSV3d | rs398122372 |
| GWAS Ctlg | rs398122372 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs398122372(A;A) rs398122372(C;C) |
| Alt | rs398122372(A;A) rs398122372(C;C) |
| Reference | Rs398122372(G;G) |
| Significance | Pathogenic |
| Disease | Platelet-type bleeding disorder 16 |
| Variation | info |
| Gene | ITGB3 THCAT158 |
| CLNDBN | Platelet-type bleeding disorder 16 |
| Reversed | 0 |
| HGVS | NC_000017.10:g.45384947G>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000043480.22, |
