rs61750117
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Von Willebrand disease, type 2A |
| (T;T) | 3 | Von Willebrand disease, type 2A |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 6018629 |
| Gene | VWF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61750117 |
| dbSNP (classic) | rs61750117 |
| ClinGen | rs61750117 |
| ebi | rs61750117 |
| HLI | rs61750117 |
| Exac | rs61750117 |
| Gnomad | rs61750117 |
| Varsome | rs61750117 |
| LitVar | rs61750117 |
| Map | rs61750117 |
| PheGenI | rs61750117 |
| Biobank | rs61750117 |
| 1000 genomes | rs61750117 |
| hgdp | rs61750117 |
| ensembl | rs61750117 |
| geneview | rs61750117 |
| scholar | rs61750117 |
| rs61750117 | |
| pharmgkb | rs61750117 |
| gwascentral | rs61750117 |
| openSNP | rs61750117 |
| 23andMe | rs61750117 |
| SNPshot | rs61750117 |
| SNPdbe | rs61750117 |
| MSV3d | rs61750117 |
| GWAS Ctlg | rs61750117 |
| Max Magnitude | 3 |
rs61750117, also known as c.4789C>T, p.Arg1597Trp and R1597X, is a SNP in the VWF gene on chromosome 12.
The rare rs61750117(T) allele is considered pathogenic for Von Willebrand disease, type 2A, according to ClinVar and the VWFdb.
This SNP is referred to as i5049117 by 23andMe.
| ClinVar | |
|---|---|
| Risk | rs61750117(G;G) Rs61750117(T;T) |
| Alt | rs61750117(G;G) Rs61750117(T;T) |
| Reference | Rs61750117(C;C) |
| Significance | Pathogenic |
| Disease | Von Willebrand disease not provided |
| Variation | info |
| Gene | VWF |
| CLNDBN | von Willebrand disease, type 2a not provided |
| Reversed | 1 |
| HGVS | NC_000012.11:g.6127795G>A; NC_000012.11:g.6127795G>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000000309.2, RCV000086797.1, RCV000086796.1, |
