rs61748477

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

12

Position

6044361

Gene

VWF

is a	snp
is	mentioned by
dbSNP	rs61748477
dbSNP (classic)	rs61748477
ClinGen	rs61748477
ebi	rs61748477
HLI	rs61748477
Exac	rs61748477
Gnomad	rs61748477
Varsome	rs61748477
LitVar	rs61748477
Map	rs61748477
PheGenI	rs61748477
Biobank	rs61748477
1000 genomes	rs61748477
hgdp	rs61748477
ensembl	rs61748477
geneview	rs61748477
scholar	rs61748477
google	rs61748477
pharmgkb	rs61748477
gwascentral	rs61748477
openSNP	rs61748477
23andMe	rs61748477
SNPshot	rs61748477
SNPdbe	rs61748477
MSV3d	rs61748477
GWAS Ctlg	rs61748477

Max Magnitude

4

rs61748477, also known as c.2372C>T, Thr791Met and T791M, is a SNP in the VWF gene on chromosome 12.

The rare rs61748477(T) allele is considered pathogenic for Von Willebrand disease, type 2N, according to ClinVar and the VWFdb.

This SNP is also referred to as i5049057 by 23andMe.

OMIM	613160
Desc
Variant	0011
Related	also

ClinVar
Risk	Rs61748477(T;T)
Alt	Rs61748477(T;T)
Reference	Rs61748477(C;C)
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.6153527G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000318.2, RCV000086606.1,