rs61750101
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 3 | Von Willebrand disease, type 2A |
| (G;T) | 3.5 | von Willebrand disease |
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 6018877 |
| Gene | VWF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61750101 |
| dbSNP (classic) | rs61750101 |
| ClinGen | rs61750101 |
| ebi | rs61750101 |
| HLI | rs61750101 |
| Exac | rs61750101 |
| Gnomad | rs61750101 |
| Varsome | rs61750101 |
| LitVar | rs61750101 |
| Map | rs61750101 |
| PheGenI | rs61750101 |
| Biobank | rs61750101 |
| 1000 genomes | rs61750101 |
| hgdp | rs61750101 |
| ensembl | rs61750101 |
| geneview | rs61750101 |
| scholar | rs61750101 |
| rs61750101 | |
| pharmgkb | rs61750101 |
| gwascentral | rs61750101 |
| openSNP | rs61750101 |
| 23andMe | rs61750101 |
| SNPshot | rs61750101 |
| SNPdbe | rs61750101 |
| MSV3d | rs61750101 |
| GWAS Ctlg | rs61750101 |
| Max Magnitude | 3.5 |
rs61750101, also known as c.4541T>G, p.Phe1514Cys and F1514C, is a SNP in the VWF gene on chromosome 12.
The rare rs61750101(G) allele is considered pathogenic for Von Willebrand disease, type 2A, according to ClinVar and the VWFdb.
This SNP is also referred to as i5049343.
| ClinVar | |
|---|---|
| Risk | Rs61750101(G;G) |
| Alt | Rs61750101(G;G) |
| Reference | Rs61750101(T;T) |
| 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.6128043A>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000000331.2, RCV000086775.1, |
