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rs61749380

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Von Willebrand disease, type 2M
(T;T) 3 Von Willebrand disease, type 2M
ReferenceGRCh38 38.1/141
Chromosome12
Position6019564
GeneVWF
is asnp
is mentioned by
dbSNPrs61749380
ebirs61749380
HLIrs61749380
Exacrs61749380
Varsomers61749380
Maprs61749380
PheGenIrs61749380
hapmaprs61749380
1000 genomesrs61749380
hgdprs61749380
ensemblrs61749380
gopubmedrs61749380
geneviewrs61749380
scholarrs61749380
googlers61749380
pharmgkbrs61749380
gwascentralrs61749380
openSNPrs61749380
23andMers61749380
23andMe allrs61749380
SNP Nexus

SNPshotrs61749380
SNPdbers61749380
MSV3drs61749380
GWAS Ctlgrs61749380
Max Magnitude3

rs61749380, also known as c.3854C>T, p.Ser1285Phe and S1285F, is a SNP in the VWF gene on chromosome 12.

The rare rs61749380(T) allele is considered pathogenic for Von Willebrand disease, type 2M, according to ClinVar and the VWFdb.

OMIM613160
Desc
Variant0030
Relatedalso


ClinVar
Risk rs61749380(T;T)
Alt rs61749380(T;T)
Reference rs61749380(C;C)
Significance Pathogenic
Disease von Willebrand disease type 2M not provided
Variation info
Gene VWF
CLNDBN von Willebrand disease type 2M not provided
Reversed 1
HGVS NC_000012.11:g.6128730G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000339.3, RCV000086691.1,