rs61749392

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

12

Position

6019479

Gene

VWF

is a	snp
is	mentioned by
dbSNP	rs61749392
dbSNP (classic)	rs61749392
ClinGen	rs61749392
ebi	rs61749392
HLI	rs61749392
Exac	rs61749392
Gnomad	rs61749392
Varsome	rs61749392
LitVar	rs61749392
Map	rs61749392
PheGenI	rs61749392
Biobank	rs61749392
1000 genomes	rs61749392
hgdp	rs61749392
ensembl	rs61749392
geneview	rs61749392
scholar	rs61749392
google	rs61749392
pharmgkb	rs61749392
gwascentral	rs61749392
openSNP	rs61749392
23andMe	rs61749392
SNPshot	rs61749392
SNPdbe	rs61749392
MSV3d	rs61749392
GWAS Ctlg	rs61749392

Max Magnitude

3.5

rs61749392, also known as c.3939G> C, p.Trp1313Cys and W1313C, is a SNP in the VWF gene on chromosome 12.

The rare rs61749392(C) allele is considered pathogenic for Von Willebrand disease, type 2B, according to ClinVar and the VWFdb.

This SNP is also referred to as i5049327 by 23andMe.

OMIM	613160
Desc
Variant	0004
Related	also

ClinVar
Risk	Rs61749392(C;C)
Alt	Rs61749392(C;C)
Reference	Rs61749392(G;G)
Significance	Pathogenic
Disease	Von Willebrand disease not provided
Variation	info
Gene	VWF
CLNDBN	von Willebrand disease, type 2b not provided
Reversed	1
HGVS	NC_000012.11:g.6128645C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000311.2, RCV000086709.1,