rs72547528
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs72547528(C;T) |
| Make rs72547528(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 31091334 |
| Gene | PRSS53, VKORC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs72547528 |
| dbSNP (classic) | rs72547528 |
| ClinGen | rs72547528 |
| ebi | rs72547528 |
| HLI | rs72547528 |
| Exac | rs72547528 |
| Gnomad | rs72547528 |
| Varsome | rs72547528 |
| LitVar | rs72547528 |
| Map | rs72547528 |
| PheGenI | rs72547528 |
| Biobank | rs72547528 |
| 1000 genomes | rs72547528 |
| hgdp | rs72547528 |
| ensembl | rs72547528 |
| geneview | rs72547528 |
| scholar | rs72547528 |
| rs72547528 | |
| pharmgkb | rs72547528 |
| gwascentral | rs72547528 |
| openSNP | rs72547528 |
| 23andMe | rs72547528 |
| SNPshot | rs72547528 |
| SNPdbe | rs72547528 |
| MSV3d | rs72547528 |
| GWAS Ctlg | rs72547528 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs72547528(G;G) rs72547528(T;T) |
| Alt | rs72547528(G;G) rs72547528(T;T) |
| Reference | Rs72547528(C;C) |
| Significance | Pathogenic |
| Disease | Vitamin k-dependent clotting factors |
| Variation | info |
| Gene | VKORC1 |
| CLNDBN | Vitamin k-dependent clotting factors, combined deficiency of, 2 |
| Reversed | 1 |
| HGVS | NC_000016.9:g.31102655G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000002290.2, |
