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rs61750101

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 3 Von Willebrand disease, type 2A
(G;T) 3 Von Willebrand disease, type 2A
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome12
Position6018877
GeneVWF
is asnp
is mentioned by
dbSNPrs61750101
ebirs61750101
HLIrs61750101
Exacrs61750101
Varsomers61750101
Maprs61750101
PheGenIrs61750101
hapmaprs61750101
1000 genomesrs61750101
hgdprs61750101
ensemblrs61750101
gopubmedrs61750101
geneviewrs61750101
scholarrs61750101
googlers61750101
pharmgkbrs61750101
gwascentralrs61750101
openSNPrs61750101
23andMers61750101
23andMe allrs61750101
SNP Nexus

SNPshotrs61750101
SNPdbers61750101
MSV3drs61750101
GWAS Ctlgrs61750101
Max Magnitude3

rs61750101, also known as c.4541T>G, p.Phe1514Cys and F1514C, is a SNP in the VWF gene on chromosome 12.

The rare rs61750101(G) allele is considered pathogenic for Von Willebrand disease, type 2A, according to ClinVar and the VWFdb.

This SNP is also referred to as i5049343.

OMIM613160
Desc
Variant0022
Relatedalso


ClinVar
Risk rs61750101(G;G)
Alt rs61750101(G;G)
Reference rs61750101(T;T)
Significance Pathogenic
Disease von Willebrand disease not provided
Variation info
Gene VWF
CLNDBN von Willebrand disease, type 2a not provided
Reversed 1
HGVS NC_000012.11:g.6128043A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000331.2, RCV000086775.1,