rs121964895
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 3 | Von Willebrand disease, type 1 |
| (A;G) | 3.5 | von Willebrand disease |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 6021960 |
| Gene | VWF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121964895 |
| dbSNP (classic) | rs121964895 |
| ClinGen | rs121964895 |
| ebi | rs121964895 |
| HLI | rs121964895 |
| Exac | rs121964895 |
| Gnomad | rs121964895 |
| Varsome | rs121964895 |
| LitVar | rs121964895 |
| Map | rs121964895 |
| PheGenI | rs121964895 |
| Biobank | rs121964895 |
| 1000 genomes | rs121964895 |
| hgdp | rs121964895 |
| ensembl | rs121964895 |
| geneview | rs121964895 |
| scholar | rs121964895 |
| rs121964895 | |
| pharmgkb | rs121964895 |
| gwascentral | rs121964895 |
| openSNP | rs121964895 |
| 23andMe | rs121964895 |
| SNPshot | rs121964895 |
| SNPdbe | rs121964895 |
| MSV3d | rs121964895 |
| GWAS Ctlg | rs121964895 |
| Merged from | Rs28934879 |
| Max Magnitude | 3.5 |
rs121964895, also known as Vicenza, c.3614G>A, p.Arg1205His and R1205H, is a SNP in the VWF gene on chromosome 12.
The rare rs121964895(A) allele is considered pathogenic for Von Willebrand disease, type 1, according to ClinVar and the VWFdb.
This SNP is also referred to as i3002797 and i5049161 by 23andMe.
| ClinVar | |
|---|---|
| Risk | Rs121964895(A;A) rs121964895(T;T) |
| Alt | Rs121964895(A;A) rs121964895(T;T) |
| Reference | Rs121964895(G;G) |
| Significance | Pathogenic |
| Disease | not provided von Willebrand disease type 1 von Willebrand factor Vicenza |
| Variation | info |
| Gene | VWF |
| CLNDBN | not provided von Willebrand disease type 1 von Willebrand factor Vicenza |
| Reversed | 1 |
| HGVS | NC_000012.11:g.6131126C>A; NC_000012.11:g.6131126C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000086667.1, RCV000000335.3, RCV000000336.3, RCV000086666.1, |
