rs61749372
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 3 | Von Willebrand disease, type 2A |
| (C;T) | 3 | Von Willebrand disease, type 2A |
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 6019604 |
| Gene | VWF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61749372 |
| dbSNP (classic) | rs61749372 |
| ClinGen | rs61749372 |
| ebi | rs61749372 |
| HLI | rs61749372 |
| Exac | rs61749372 |
| Gnomad | rs61749372 |
| Varsome | rs61749372 |
| LitVar | rs61749372 |
| Map | rs61749372 |
| PheGenI | rs61749372 |
| Biobank | rs61749372 |
| 1000 genomes | rs61749372 |
| hgdp | rs61749372 |
| ensembl | rs61749372 |
| geneview | rs61749372 |
| scholar | rs61749372 |
| rs61749372 | |
| pharmgkb | rs61749372 |
| gwascentral | rs61749372 |
| openSNP | rs61749372 |
| 23andMe | rs61749372 |
| SNPshot | rs61749372 |
| SNPdbe | rs61749372 |
| MSV3d | rs61749372 |
| GWAS Ctlg | rs61749372 |
| Max Magnitude | 3 |
rs61749372, also known as c.3814T>C, p.Cys1272Arg and C1272R, is a SNP in the VWF gene on chromosome 12.
The rare rs61749372(C) allele is considered pathogenic for Von Willebrand disease, type 2A, according to ClinVar and the VWFdb.
This SNP is also referred to as i5049192 by 23andMe.
| ClinVar | |
|---|---|
| Risk | Rs61749372(C;C) rs61749372(G;G) |
| Alt | Rs61749372(C;C) rs61749372(G;G) |
| Reference | Rs61749372(T;T) |
| Significance | Pathogenic |
| Disease | not provided Von Willebrand disease |
| Variation | info |
| Gene | VWF |
| CLNDBN | not provided von Willebrand disease, type 2a |
| Reversed | 1 |
| HGVS | NC_000012.11:g.6128770A>C; NC_000012.11:g.6128770A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000086680.1, RCV000000328.2, RCV000086679.1, |
