rs62643632
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 4 | Von Willebrand disease, type 3 |
(C;C) | 0 | common in clinvar |
Reference | GRCh38 38.1/142 |
Chromosome | 12 |
Position | 6044298 |
Gene | VWF |
is a | snp |
is | mentioned by |
dbSNP | rs62643632 |
dbSNP (classic) | rs62643632 |
ClinGen | rs62643632 |
ebi | rs62643632 |
HLI | rs62643632 |
Exac | rs62643632 |
Gnomad | rs62643632 |
Varsome | rs62643632 |
LitVar | rs62643632 |
Map | rs62643632 |
PheGenI | rs62643632 |
Biobank | rs62643632 |
1000 genomes | rs62643632 |
hgdp | rs62643632 |
ensembl | rs62643632 |
geneview | rs62643632 |
scholar | rs62643632 |
rs62643632 | |
pharmgkb | rs62643632 |
gwascentral | rs62643632 |
openSNP | rs62643632 |
23andMe | rs62643632 |
SNPshot | rs62643632 |
SNPdbe | rs62643632 |
MSV3d | rs62643632 |
GWAS Ctlg | rs62643632 |
Max Magnitude | 4 |
rs62643632, also known as c.2435delC and p.Pro812Argfs, is a SNP in the VWF gene on chromosome 12.
The rare rs62643632(-) allele is considered pathogenic for Von Willebrand disease, type 3, according to ClinVar and the VWFdb.
This SNP does not appear to be represented on the DNA chip currently used by 23andMe. An error in late July in SNPedia indicated that this SNP was referred to as i5039483 by 23andMe, but that SNP is actually the adjacent nucleotide.
ClinVar | |
---|---|
Risk | Rs62643632(-;-) |
Alt | Rs62643632(-;-) |
Reference | Rs62643632(C;C) |
Significance | Pathogenic |
Disease | von Willebrand disease type 3 not provided |
Variation | info |
Gene | VWF |
CLNDBN | von Willebrand disease type 3 not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.6153464delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000330.5, RCV000086611.1, |