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
CUI: C0042974
Disease: von Willebrand Disease
0.710 CausalMutation CLINVAR A common ancestor more than 10,000 years old for patients with R854Q-related type 2N von Willebrand's disease in Italy. 22875612 2013
von Willebrand Disease
CUI: C0042974
Disease: von Willebrand Disease
0.710 CausalMutation CLINVAR We examined BOECs derived from a single subject heterozygous for a type 2N mutation (p.Arg854Gln) and from 4 patients with type 1 VWD who were, respectively, heterozygous for p.Ser1285Pro, p.Leu1307Pro, p.Tyr1584Cys, and p.Cys2693Tyr. 23426949 2013
von Willebrand Disease, Recessive Form
CUI: C1848525
Disease: von Willebrand Disease, Recessive Form
0.700 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