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rs61750630

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 carrier of a Von Willebrand disease allele
(T;T) 4 Von Willebrand disease, type 3
ReferenceGRCh38 38.1/141
Chromosome12
Position5981988
GeneVWF
is asnp
is mentioned by
dbSNPrs61750630
ebirs61750630
HLIrs61750630
Exacrs61750630
Varsomers61750630
Maprs61750630
PheGenIrs61750630
hapmaprs61750630
1000 genomesrs61750630
hgdprs61750630
ensemblrs61750630
gopubmedrs61750630
geneviewrs61750630
scholarrs61750630
googlers61750630
pharmgkbrs61750630
gwascentralrs61750630
openSNPrs61750630
23andMers61750630
23andMe allrs61750630
SNP Nexus

SNPshotrs61750630
SNPdbers61750630
MSV3drs61750630
GWAS Ctlgrs61750630
Max Magnitude4

rs61750630, also known as c.7085G>T, p.Cys2362Phe and C2362F, is a SNP in the VWF gene on chromosome 12.

The rare rs61750630(T) allele is considered pathogenic for Von Willebrand disease, type 3, according to ClinVar and the VWFdb.

This SNP is also referred to as i5049314 by 23andMe.

OMIM613160
Desc
Variant0034
Relatedalso


ClinVar
Risk rs61750630(T;T)
Alt rs61750630(T;T)
Reference rs61750630(G;G)
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.6091154C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000343.3, RCV000086870.1,