rs61753993
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common/normal |
| (A;G) | 3 | Von Willebrand disease, type 1 (likely) |
| (G;G) | 3 | Von Willebrand disease, type 1 (likely) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 12 |
| Position | 6110484 |
| Gene | VWF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61753993 |
| dbSNP (classic) | rs61753993 |
| ClinGen | rs61753993 |
| ebi | rs61753993 |
| HLI | rs61753993 |
| Exac | rs61753993 |
| Gnomad | rs61753993 |
| Varsome | rs61753993 |
| LitVar | rs61753993 |
| Map | rs61753993 |
| PheGenI | rs61753993 |
| Biobank | rs61753993 |
| 1000 genomes | rs61753993 |
| hgdp | rs61753993 |
| ensembl | rs61753993 |
| geneview | rs61753993 |
| scholar | rs61753993 |
| rs61753993 | |
| pharmgkb | rs61753993 |
| gwascentral | rs61753993 |
| openSNP | rs61753993 |
| 23andMe | rs61753993 |
| SNPshot | rs61753993 |
| SNPdbe | rs61753993 |
| MSV3d | rs61753993 |
| GWAS Ctlg | rs61753993 |
| Max Magnitude | 3 |
rs61753993, also known as c.422A>G, p.Asp141Gly and D141G, is a SNP in the VWF gene on chromosome 12.
The rarer rs61753993(G) allele is considered likely to cause Von Willebrand disease, type 1, according to one publication.[PMID 17080221]
This SNP is referred to as i5049208 by 23andMe.
| ClinVar | |
|---|---|
| Risk | Rs61753993(G;G) |
| Alt | Rs61753993(G;G) |
| Reference | Rs61753993(A;A) |
| Significance | Untested |
| Disease | not provided |
| Variation | info |
| Gene | VWF |
| CLNDBN | not provided |
| Reversed | 1 |
| HGVS | NC_000012.11:g.6219650T>C |
| CLNSRC | |
| CLNACC | RCV000086746.1, |
