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rs61748497

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 4 Von Willebrand disease, type 2N
(C;T) 3 carrier of a Von Willebrand disease allele
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome12
Position6025624
GeneVWF
is asnp
is mentioned by
dbSNPrs61748497
ebirs61748497
HLIrs61748497
Exacrs61748497
Varsomers61748497
Maprs61748497
PheGenIrs61748497
hapmaprs61748497
1000 genomesrs61748497
hgdprs61748497
ensemblrs61748497
gopubmedrs61748497
geneviewrs61748497
scholarrs61748497
googlers61748497
pharmgkbrs61748497
gwascentralrs61748497
openSNPrs61748497
23andMers61748497
23andMe allrs61748497
SNP Nexus

SNPshotrs61748497
SNPdbers61748497
MSV3drs61748497
GWAS Ctlgrs61748497
Max Magnitude4

rs61748497, also known as c.3178T>C, p.Cys1060Arg and C1060R, is a SNP in the VWF gene on chromosome 12.

The rare rs61748497(C) allele is considered pathogenic for Von Willebrand disease, type 2N, according to ClinVar and the VWFdb.


ClinVar
Risk rs61748497(C;C)
Alt rs61748497(C;C)
Reference rs61748497(T;T)
Significance Pathogenic
Disease von Willebrand disease type 2N not provided
Variation info
Gene VWF
CLNDBN von Willebrand disease type 2N not provided
Reversed 1
HGVS NC_000012.11:g.6134790A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000345.3, RCV000086640.1,