rs61748497

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	4	Von Willebrand disease, type 2N
(C;T)	3	carrier of a Von Willebrand disease allele
(T;T)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

12

Position

6025624

Gene

VWF

is a	snp
is	mentioned by
dbSNP	rs61748497
dbSNP (classic)	rs61748497
ClinGen	rs61748497
ebi	rs61748497
HLI	rs61748497
Exac	rs61748497
Gnomad	rs61748497
Varsome	rs61748497
LitVar	rs61748497
Map	rs61748497
PheGenI	rs61748497
Biobank	rs61748497
1000 genomes	rs61748497
hgdp	rs61748497
ensembl	rs61748497
geneview	rs61748497
scholar	rs61748497
google	rs61748497
pharmgkb	rs61748497
gwascentral	rs61748497
openSNP	rs61748497
23andMe	rs61748497
SNPshot	rs61748497
SNPdbe	rs61748497
MSV3d	rs61748497
GWAS Ctlg	rs61748497

Max Magnitude

4

rs61748497, also known as c.3178T>C, p.Cys1060Arg and C1060R, is a SNP in the VWF gene on chromosome 12.

The rare rs61748497(C) allele is considered pathogenic for Von Willebrand disease, type 2N, according to ClinVar and the VWFdb.

ClinVar
Risk	Rs61748497(C;C)
Alt	Rs61748497(C;C)
Reference	Rs61748497(T;T)
Significance	Pathogenic
Disease	von Willebrand disease type 2N not provided
Variation	info
Gene	VWF
CLNDBN	von Willebrand disease type 2N not provided
Reversed	1
HGVS	NC_000012.11:g.6134790A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000345.3, RCV000086640.1,