rs121964894

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

6036488

Gene

VWF

is a	snp
is	mentioned by
dbSNP	rs121964894
dbSNP (classic)	rs121964894
ClinGen	rs121964894
ebi	rs121964894
HLI	rs121964894
Exac	rs121964894
Gnomad	rs121964894
Varsome	rs121964894
LitVar	rs121964894
Map	rs121964894
PheGenI	rs121964894
Biobank	rs121964894
1000 genomes	rs121964894
hgdp	rs121964894
ensembl	rs121964894
geneview	rs121964894
scholar	rs121964894
google	rs121964894
pharmgkb	rs121964894
gwascentral	rs121964894
openSNP	rs121964894
23andMe	rs121964894
SNPshot	rs121964894
SNPdbe	rs121964894
MSV3d	rs121964894
GWAS Ctlg	rs121964894

Max Magnitude

4

rs121964894, also known as c.2446C>T, p.Arg816Trp and R816W, is a SNP in the VWF gene on chromosome 12.

The rare rs121964894(T) allele is considered pathogenic for Von Willebrand disease, type 2N, according to ClinVar and the VWFdb.

This SNP is also referred to as i5049115 by 23andMe.

OMIM	613160
Desc
Variant	0012
Related	also

ClinVar
Risk	Rs121964894(T;T)
Alt	Rs121964894(T;T)
Reference	Rs121964894(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.6145654G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000319.2, RCV000086613.1,