rs61748495
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 3 | Von Willebrand disease, type 1 (likely) |
(A;G) | 3 | Von Willebrand disease, type 1 (likely) |
(G;G) | 0 | common/normal |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 12 |
Position | 6025901 |
Gene | VWF |
is a | snp |
is | mentioned by |
dbSNP | rs61748495 |
dbSNP (classic) | rs61748495 |
ClinGen | rs61748495 |
ebi | rs61748495 |
HLI | rs61748495 |
Exac | rs61748495 |
Gnomad | rs61748495 |
Varsome | rs61748495 |
LitVar | rs61748495 |
Map | rs61748495 |
PheGenI | rs61748495 |
Biobank | rs61748495 |
1000 genomes | rs61748495 |
hgdp | rs61748495 |
ensembl | rs61748495 |
geneview | rs61748495 |
scholar | rs61748495 |
rs61748495 | |
pharmgkb | rs61748495 |
gwascentral | rs61748495 |
openSNP | rs61748495 |
23andMe | rs61748495 |
SNPshot | rs61748495 |
SNPdbe | rs61748495 |
MSV3d | rs61748495 |
GWAS Ctlg | rs61748495 |
Max Magnitude | 3 |
rs61748495, also known as c.3108+5G>A, is a SNP in the VWF gene on chromosome 12.
The rarer rs61748495(A) allele is considered likely to cause Von Willebrand disease, type 1, according to one publication.[PMID 17080221]
ClinVar | |
---|---|
Risk | Rs61748495(A;A) |
Alt | Rs61748495(A;A) |
Reference | Rs61748495(G;G) |
Significance | Untested |
Disease | not provided |
Variation | info |
Gene | VWF |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.6135067C>T |
CLNSRC | |
CLNACC | RCV000086638.1, |