rs61754002
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 4 | Von Willebrand disease, type 2N |
| (A;C) | 3 | carrier of a Von Willebrand disease allele |
| (C;C) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 6072369 |
| Gene | VWF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61754002 |
| dbSNP (classic) | rs61754002 |
| ClinGen | rs61754002 |
| ebi | rs61754002 |
| HLI | rs61754002 |
| Exac | rs61754002 |
| Gnomad | rs61754002 |
| Varsome | rs61754002 |
| LitVar | rs61754002 |
| Map | rs61754002 |
| PheGenI | rs61754002 |
| Biobank | rs61754002 |
| 1000 genomes | rs61754002 |
| hgdp | rs61754002 |
| ensembl | rs61754002 |
| geneview | rs61754002 |
| scholar | rs61754002 |
| rs61754002 | |
| pharmgkb | rs61754002 |
| gwascentral | rs61754002 |
| openSNP | rs61754002 |
| 23andMe | rs61754002 |
| SNPshot | rs61754002 |
| SNPdbe | rs61754002 |
| MSV3d | rs61754002 |
| GWAS Ctlg | rs61754002 |
| Max Magnitude | 4 |
rs61754002, also known as c.1071C>A, p.Tyr357Ter and Y357X, is a SNP in the VWF gene on chromosome 12.
The rare rs61754002(A) allele is considered pathogenic for Von Willebrand disease, type 2N, according to ClinVar and the VWFdb.
This SNP is also referred to as i5049284 by 23andMe.
| ClinVar | |
|---|---|
| Risk | Rs61754002(A;A) |
| Alt | Rs61754002(A;A) |
| Reference | Rs61754002(C;C) |
| 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.6181535G>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000000344.3, RCV000086555.1, |
