rs61751310

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

12

Position

5949140

Gene

ANO2, VWF

is a	snp
is	mentioned by
dbSNP	rs61751310
dbSNP (classic)	rs61751310
ClinGen	rs61751310
ebi	rs61751310
HLI	rs61751310
Exac	rs61751310
Gnomad	rs61751310
Varsome	rs61751310
LitVar	rs61751310
Map	rs61751310
PheGenI	rs61751310
Biobank	rs61751310
1000 genomes	rs61751310
hgdp	rs61751310
ensembl	rs61751310
geneview	rs61751310
scholar	rs61751310
google	rs61751310
pharmgkb	rs61751310
gwascentral	rs61751310
openSNP	rs61751310
23andMe	rs61751310
SNPshot	rs61751310
SNPdbe	rs61751310
MSV3d	rs61751310
GWAS Ctlg	rs61751310

Max Magnitude

3.5

rs61751310, also known as c.8317T>C, p.Cys2773Arg, and C2010R, is a SNP in the VWF gene on chromosome 12.

The rare rs61751310(C) allele is considered pathogenic for Von Willebrand disease, type 2A, according to ClinVar and the VWFdb.

OMIM	613160
Desc
Variant	0024
Related	also

ClinVar
Risk	Rs61751310(C;C)
Alt	Rs61751310(C;C)
Reference	Rs61751310(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.6058306A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000333.3, RCV000086917.1,