rs121964894
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | carrier of a Von Willebrand disease allele |
(T;T) | 4 | Von Willebrand disease, type 2N |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 6036488 |
Gene | VWF |
is a | snp |
is | mentioned by |
dbSNP | rs121964894 |
dbSNP (classic) | rs121964894 |
ClinGen | rs121964894 |
ebi | rs121964894 |
HLI | rs121964894 |
Exac | rs121964894 |
Gnomad | rs121964894 |
Varsome | rs121964894 |
LitVar | rs121964894 |
Map | rs121964894 |
PheGenI | rs121964894 |
Biobank | rs121964894 |
1000 genomes | rs121964894 |
hgdp | rs121964894 |
ensembl | rs121964894 |
geneview | rs121964894 |
scholar | rs121964894 |
rs121964894 | |
pharmgkb | rs121964894 |
gwascentral | rs121964894 |
openSNP | rs121964894 |
23andMe | rs121964894 |
SNPshot | rs121964894 |
SNPdbe | rs121964894 |
MSV3d | rs121964894 |
GWAS Ctlg | rs121964894 |
Max Magnitude | 4 |
rs121964894, also known as c.2446C>T, p.Arg816Trp and R816W, is a SNP in the VWF gene on chromosome 12.
The rare rs121964894(T) allele is considered pathogenic for Von Willebrand disease, type 2N, according to ClinVar and the VWFdb.
This SNP is also referred to as i5049115 by 23andMe.
ClinVar | |
---|---|
Risk | Rs121964894(T;T) |
Alt | Rs121964894(T;T) |
Reference | Rs121964894(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.6145654G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000000319.2, RCV000086613.1, |