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rs61749403

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 3 Von Willebrand disease, type 2B
(A;G) 3 Von Willebrand disease, type 2B
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome12
Position6019396
GeneVWF
is asnp
is mentioned by
dbSNPrs61749403
ebirs61749403
HLIrs61749403
Exacrs61749403
Varsomers61749403
Maprs61749403
PheGenIrs61749403
hapmaprs61749403
1000 genomesrs61749403
hgdprs61749403
ensemblrs61749403
gopubmedrs61749403
geneviewrs61749403
scholarrs61749403
googlers61749403
pharmgkbrs61749403
gwascentralrs61749403
openSNPrs61749403
23andMers61749403
23andMe allrs61749403
SNP Nexus

SNPshotrs61749403
SNPdbers61749403
MSV3drs61749403
GWAS Ctlgrs61749403
Max Magnitude3

rs61749403, also known as c.4022G>A, p.Arg1341Gln and R1341Q, is a SNP in the VWF gene on chromosome 12.

The rare rs61749403(A) allele is considered pathogenic for Von Willebrand disease, type 2B, according to ClinVar and the VWFdb.

OMIM613160
Desc
Variant0008
Relatedalso


ClinVar
Risk rs61749403(A,C,T;A,C,T)
Alt rs61749403(A,C,T;A,C,T)
Reference rs61749403(G;G)
Significance Pathogenic
Disease not provided von Willebrand disease
Variation info
Gene VWF
CLNDBN not provided von Willebrand disease, type 2b
Reversed 1
HGVS NC_000012.11:g.6128562C>A; NC_000012.11:g.6128562C>G; NC_000012.11:g.6128562C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000086723.1, RCV000086722.1, RCV000000315.2, RCV000086721.1,