rs267607326

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	3.5	von Willebrand disease
(G;G)	3	Von Willebrand disease, type 2A

Reference

GRCh38 38.1/141

Chromosome

12

Position

6022841

Gene

VWF

is a	snp
is	mentioned by
dbSNP	rs267607326
dbSNP (classic)	rs267607326
ClinGen	rs267607326
ebi	rs267607326
HLI	rs267607326
Exac	rs267607326
Gnomad	rs267607326
Varsome	rs267607326
LitVar	rs267607326
Map	rs267607326
PheGenI	rs267607326
Biobank	rs267607326
1000 genomes	rs267607326
hgdp	rs267607326
ensembl	rs267607326
geneview	rs267607326
scholar	rs267607326
google	rs267607326
pharmgkb	rs267607326
gwascentral	rs267607326
openSNP	rs267607326
23andMe	rs267607326
SNPshot	rs267607326
SNPdbe	rs267607326
MSV3d	rs267607326
GWAS Ctlg	rs267607326

Max Magnitude

3.5

rs267607326, also known as c.3437A>G, p.Tyr1146Cys and Y1146C, is a SNP in the VWF gene on chromosome 12.

The rare rs267607326(G) allele is considered pathogenic for Von Willebrand disease, type 2A, according to ClinVar and the VWFdb.

ClinVar
Risk	Rs267607326(G;G)
Alt	Rs267607326(G;G)
Reference	Rs267607326(A;A)
Significance	Pathogenic
Disease	von Willebrand disease type 2 not provided
Variation	info
Gene	VWF
CLNDBN	von Willebrand disease type 2 not provided
Reversed	1
HGVS	NC_000012.11:g.6132007T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000024001.3, RCV000086656.1,