rs61750584

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	4	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

6018535

Gene

VWF

is a	snp
is	mentioned by
dbSNP	rs61750584
dbSNP (classic)	rs61750584
ClinGen	rs61750584
ebi	rs61750584
HLI	rs61750584
Exac	rs61750584
Gnomad	rs61750584
Varsome	rs61750584
LitVar	rs61750584
Map	rs61750584
PheGenI	rs61750584
Biobank	rs61750584
1000 genomes	rs61750584
hgdp	rs61750584
ensembl	rs61750584
geneview	rs61750584
scholar	rs61750584
google	rs61750584
pharmgkb	rs61750584
gwascentral	rs61750584
openSNP	rs61750584
23andMe	rs61750584
SNPshot	rs61750584
SNPdbe	rs61750584
MSV3d	rs61750584
GWAS Ctlg	rs61750584

Max Magnitude

4

rs61750584, also known as c.4883T>C, p.Ile1628Thr and I1628T, is a SNP in the VWF gene on chromosome 12.

The rare rs61750584(C) allele is considered pathogenic for Von Willebrand disease, type 2A, according to ClinVar and the VWFdb.

This SNP is also referred to as i5049076 by 23andMe.

OMIM	613160
Desc
Variant	0001
Related	also

ClinVar
Risk	Rs61750584(C;C)
Alt	Rs61750584(C;C)
Reference	Rs61750584(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.6127701A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000308.2, RCV000086808.1,