rs61750595
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | likely miscall in Ancestry V2.0 datasets; otherwise, carrier of a Von Willebrand disease allele |
(T;T) | 4 | likely miscall in Ancestry V2.0 datasets; otherwise, Von Willebrand disease, type 3 |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 6018443 |
Gene | VWF |
is a | snp |
is | mentioned by |
dbSNP | rs61750595 |
dbSNP (classic) | rs61750595 |
ClinGen | rs61750595 |
ebi | rs61750595 |
HLI | rs61750595 |
Exac | rs61750595 |
Gnomad | rs61750595 |
Varsome | rs61750595 |
LitVar | rs61750595 |
Map | rs61750595 |
PheGenI | rs61750595 |
Biobank | rs61750595 |
1000 genomes | rs61750595 |
hgdp | rs61750595 |
ensembl | rs61750595 |
geneview | rs61750595 |
scholar | rs61750595 |
rs61750595 | |
pharmgkb | rs61750595 |
gwascentral | rs61750595 |
openSNP | rs61750595 |
23andMe | rs61750595 |
SNPshot | rs61750595 |
SNPdbe | rs61750595 |
MSV3d | rs61750595 |
GWAS Ctlg | rs61750595 |
Max Magnitude | 4 |
rs61750595, also known as c.4975C>T, p.Arg1659Ter and R1659X, is a SNP in the VWF gene on chromosome 12.
The rare rs61750595(T) allele is considered pathogenic for Von Willebrand disease, type 3, according to ClinVar and the VWFdb.
This SNP is referred to as i5049104 by 23andMe.
Note: As of June 2016, we have noticed that the AncestryDNA V2.0 datasets are prone to miscalls for this SNP.
ClinVar | |
---|---|
Risk | Rs61750595(T;T) |
Alt | Rs61750595(T;T) |
Reference | Rs61750595(C;C) |
Significance | Pathogenic |
Disease | von Willebrand disease type 3 von Willebrand disease type 1 not provided |
Variation | info |
Gene | VWF |
CLNDBN | von Willebrand disease type 3 von Willebrand disease type 1 not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.6127609G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000322.4, RCV000000323.4, RCV000086820.1, |