rs41276738, VWF

N. diseases: 7
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
von Willebrand Disease, Type 1
CUI: C1264039
Disease: von Willebrand Disease, Type 1
0.710 CausalMutation CLINVAR
Abnormality of coagulation
CUI: C1846821
Disease: Abnormality of coagulation
0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
von Willebrand Disease, Recessive Form
CUI: C1848525
Disease: von Willebrand Disease, Recessive Form
0.700 CausalMutation CLINVAR
von Willebrand Disease, Type 2B
CUI: C1282971
Disease: von Willebrand Disease, Type 2B
0.010 GeneticVariation BEFREE In the second case, the genetic analysis of VWF exon 28 identified a homozygous mutation: p.Pro1337Leu confirming type VWD2B and also the p.Arg854Gln homozygous mutation in exon 20 confirming type 2N (ratio FVIII/VWF:Ag <0.5). 28436749 2017