rs61750630
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | carrier of a Von Willebrand disease allele |
| (T;T) | 4 | Von Willebrand disease, type 3 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 5981988 |
| Gene | VWF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61750630 |
| dbSNP (classic) | rs61750630 |
| ClinGen | rs61750630 |
| ebi | rs61750630 |
| HLI | rs61750630 |
| Exac | rs61750630 |
| Gnomad | rs61750630 |
| Varsome | rs61750630 |
| LitVar | rs61750630 |
| Map | rs61750630 |
| PheGenI | rs61750630 |
| Biobank | rs61750630 |
| 1000 genomes | rs61750630 |
| hgdp | rs61750630 |
| ensembl | rs61750630 |
| geneview | rs61750630 |
| scholar | rs61750630 |
| rs61750630 | |
| pharmgkb | rs61750630 |
| gwascentral | rs61750630 |
| openSNP | rs61750630 |
| 23andMe | rs61750630 |
| SNPshot | rs61750630 |
| SNPdbe | rs61750630 |
| MSV3d | rs61750630 |
| GWAS Ctlg | rs61750630 |
| Max Magnitude | 4 |
rs61750630, also known as c.7085G>T, p.Cys2362Phe and C2362F, is a SNP in the VWF gene on chromosome 12.
The rare rs61750630(T) allele is considered pathogenic for Von Willebrand disease, type 3, according to ClinVar and the VWFdb.
This SNP is also referred to as i5049314 by 23andMe.
| ClinVar | |
|---|---|
| Risk | Rs61750630(T;T) |
| Alt | Rs61750630(T;T) |
| Reference | Rs61750630(G;G) |
| Significance | Pathogenic |
| Disease | von Willebrand disease type 3 not provided |
| Variation | info |
| Gene | VWF |
| CLNDBN | von Willebrand disease type 3 not provided |
| Reversed | 1 |
| HGVS | NC_000012.11:g.6091154C>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000000343.3, RCV000086870.1, |
