rs61750595

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	likely miscall in Ancestry V2.0 datasets; otherwise, carrier of a Von Willebrand disease allele
(T;T)	4	likely miscall in Ancestry V2.0 datasets; otherwise, Von Willebrand disease, type 3

Reference

GRCh38 38.1/141

Chromosome

12

Position

6018443

Gene

VWF

is a	snp
is	mentioned by
dbSNP	rs61750595
dbSNP (classic)	rs61750595
ClinGen	rs61750595
ebi	rs61750595
HLI	rs61750595
Exac	rs61750595
Gnomad	rs61750595
Varsome	rs61750595
LitVar	rs61750595
Map	rs61750595
PheGenI	rs61750595
Biobank	rs61750595
1000 genomes	rs61750595
hgdp	rs61750595
ensembl	rs61750595
geneview	rs61750595
scholar	rs61750595
google	rs61750595
pharmgkb	rs61750595
gwascentral	rs61750595
openSNP	rs61750595
23andMe	rs61750595
SNPshot	rs61750595
SNPdbe	rs61750595
MSV3d	rs61750595
GWAS Ctlg	rs61750595

Max Magnitude

4

rs61750595, also known as c.4975C>T, p.Arg1659Ter and R1659X, is a SNP in the VWF gene on chromosome 12.

The rare rs61750595(T) allele is considered pathogenic for Von Willebrand disease, type 3, according to ClinVar and the VWFdb.

This SNP is referred to as i5049104 by 23andMe.

Note: As of June 2016, we have noticed that the AncestryDNA V2.0 datasets are prone to miscalls for this SNP.

OMIM	613160
Desc
Variant	0015
Related	also

ClinVar
Risk	Rs61750595(T;T)
Alt	Rs61750595(T;T)
Reference	Rs61750595(C;C)
Significance	Pathogenic
Disease	von Willebrand disease type 3 von Willebrand disease type 1 not provided
Variation	info
Gene	VWF
CLNDBN	von Willebrand disease type 3 von Willebrand disease type 1 not provided
Reversed	1
HGVS	NC_000012.11:g.6127609G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000322.4, RCV000000323.4, RCV000086820.1,