rs61753993
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common/normal |
(A;G) | 3 | Von Willebrand disease, type 1 (likely) |
(G;G) | 3 | Von Willebrand disease, type 1 (likely) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 12 |
Position | 6110484 |
Gene | VWF |
is a | snp |
is | mentioned by |
dbSNP | rs61753993 |
dbSNP (classic) | rs61753993 |
ClinGen | rs61753993 |
ebi | rs61753993 |
HLI | rs61753993 |
Exac | rs61753993 |
Gnomad | rs61753993 |
Varsome | rs61753993 |
LitVar | rs61753993 |
Map | rs61753993 |
PheGenI | rs61753993 |
Biobank | rs61753993 |
1000 genomes | rs61753993 |
hgdp | rs61753993 |
ensembl | rs61753993 |
geneview | rs61753993 |
scholar | rs61753993 |
rs61753993 | |
pharmgkb | rs61753993 |
gwascentral | rs61753993 |
openSNP | rs61753993 |
23andMe | rs61753993 |
SNPshot | rs61753993 |
SNPdbe | rs61753993 |
MSV3d | rs61753993 |
GWAS Ctlg | rs61753993 |
Max Magnitude | 3 |
rs61753993, also known as c.422A>G, p.Asp141Gly and D141G, is a SNP in the VWF gene on chromosome 12.
The rarer rs61753993(G) allele is considered likely to cause Von Willebrand disease, type 1, according to one publication.[PMID 17080221]
This SNP is referred to as i5049208 by 23andMe.
ClinVar | |
---|---|
Risk | Rs61753993(G;G) |
Alt | Rs61753993(G;G) |
Reference | Rs61753993(A;A) |
Significance | Untested |
Disease | not provided |
Variation | info |
Gene | VWF |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.6219650T>C |
CLNSRC | |
CLNACC | RCV000086746.1, |