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rs61748511

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 3 Von Willebrand disease, type 1
(C;T) 3 Von Willebrand disease, type 1
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome12
Position6022833
GeneVWF
is asnp
is mentioned by
dbSNPrs61748511
ebirs61748511
HLIrs61748511
Exacrs61748511
Varsomers61748511
Maprs61748511
PheGenIrs61748511
hapmaprs61748511
1000 genomesrs61748511
hgdprs61748511
ensemblrs61748511
gopubmedrs61748511
geneviewrs61748511
scholarrs61748511
googlers61748511
pharmgkbrs61748511
gwascentralrs61748511
openSNPrs61748511
23andMers61748511
23andMe allrs61748511
SNP Nexus

SNPshotrs61748511
SNPdbers61748511
MSV3drs61748511
GWAS Ctlgrs61748511
Max Magnitude3

rs61748511, also known as c.3445T>C, p.Cys1149Arg and C1149R, is a SNP in the VWF gene on chromosome 12.

The rare rs61748511(C) allele is considered pathogenic for Von Willebrand disease, type 1, according to ClinVar and the VWFdb.

This SNP is also referred to as i5004518 by 23andMe.

OMIM613160
Desc
Variant0028
Relatedalso
ClinVar
Risk rs61748511(C;C)
Alt rs61748511(C;C)
Reference rs61748511(T;T)
Significance Pathogenic
Disease von Willebrand disease type 1 not provided
Variation info
Gene VWF
CLNDBN von Willebrand disease type 1 not provided
Reversed 1
HGVS NC_000012.11:g.6131999A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000337.3, RCV000086657.1,