DisGeNET - a database of gene-disease associations

von Willebrand Disease, Type 1, C1264039

Variant: rs33978901 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs33978901

VWF

0.020

GeneticVariation

BEFREE

To determine whether the p.R924Q allele contributes to reduced VWF levels and type 1 VWD.

20492463

2010

dbSNP:

rs33978901

VWF

0.020

GeneticVariation

BEFREE

The frequency of the R924Q variant in the normal and type 1 VWD populations was ascertained, along with the associated polymorphic VWF haplotype.

19624459

2009