rs61748478
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 3 | carrier of a Von Willebrand disease allele |
| (G;G) | 4 | Von Willebrand disease, type 2N |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 6044349 |
| Gene | VWF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61748478 |
| dbSNP (classic) | rs61748478 |
| ClinGen | rs61748478 |
| ebi | rs61748478 |
| HLI | rs61748478 |
| Exac | rs61748478 |
| Gnomad | rs61748478 |
| Varsome | rs61748478 |
| LitVar | rs61748478 |
| Map | rs61748478 |
| PheGenI | rs61748478 |
| Biobank | rs61748478 |
| 1000 genomes | rs61748478 |
| hgdp | rs61748478 |
| ensembl | rs61748478 |
| geneview | rs61748478 |
| scholar | rs61748478 |
| rs61748478 | |
| pharmgkb | rs61748478 |
| gwascentral | rs61748478 |
| openSNP | rs61748478 |
| 23andMe | rs61748478 |
| SNPshot | rs61748478 |
| SNPdbe | rs61748478 |
| MSV3d | rs61748478 |
| GWAS Ctlg | rs61748478 |
| Max Magnitude | 4 |
rs61748478, also known as c.2384A>G, p.Tyr795Cys and Y795C, is a SNP in the VWF gene on chromosome 12.
The rare rs61748478(G) allele is considered pathogenic for Von Willebrand disease, type 2N, according to ClinVar and the VWFdb.
This SNP is also referred to as i5049289 by 23andMe.
| ClinVar | |
|---|---|
| Risk | Rs61748478(G;G) |
| Alt | Rs61748478(G;G) |
| Reference | Rs61748478(A;A) |
| Significance | Pathogenic |
| Disease | von Willebrand disease type 2N not provided |
| Variation | info |
| Gene | VWF |
| CLNDBN | von Willebrand disease type 2N not provided |
| Reversed | 1 |
| HGVS | NC_000012.11:g.6153515T>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000000340.3, RCV000086607.1, |
