rs61750591
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 3 | Von Willebrand disease, type 1 (likely) |
(-;T) | 3 | Von Willebrand disease, type 1 (likely) |
(T;T) | 0 | common/normal |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 12 |
Position | 6018474 |
Gene | VWF |
is a | snp |
is | mentioned by |
dbSNP | rs61750591 |
dbSNP (classic) | rs61750591 |
ClinGen | rs61750591 |
ebi | rs61750591 |
HLI | rs61750591 |
Exac | rs61750591 |
Gnomad | rs61750591 |
Varsome | rs61750591 |
LitVar | rs61750591 |
Map | rs61750591 |
PheGenI | rs61750591 |
Biobank | rs61750591 |
1000 genomes | rs61750591 |
hgdp | rs61750591 |
ensembl | rs61750591 |
geneview | rs61750591 |
scholar | rs61750591 |
rs61750591 | |
pharmgkb | rs61750591 |
gwascentral | rs61750591 |
openSNP | rs61750591 |
23andMe | rs61750591 |
SNPshot | rs61750591 |
SNPdbe | rs61750591 |
MSV3d | rs61750591 |
GWAS Ctlg | rs61750591 |
Max Magnitude | 3 |
rs61750591, also known as c.4944delT, p.Ile1649Serfs and p.1648fsX45, is a SNP in the VWF gene on chromosome 12.
The rarer rs61750591(-) deletion allele is considered likely to cause Von Willebrand disease, type 1, according to one publication.[PMID 17080221]
This SNP appears to be referred to as i5039448 by 23andMe.
ClinVar | |
---|---|
Risk | Rs61750591(-;-) |
Alt | Rs61750591(-;-) |
Reference | Rs61750591(T;T) |
Significance | Untested |
Disease | not provided |
Variation | info |
Gene | VWF |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.6127640delA |
CLNSRC | |
CLNACC | RCV000086816.1, |