VWF, von Willebrand factor, 7450

N. diseases: 498; N. variants: 158
Disease: von Willebrand Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61749395
rs61749395
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C0042974
Disease:
von Willebrand Disease 		A 0.710 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
dbSNP: rs61749395
rs61749395
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C0042974
Disease:
von Willebrand Disease 		0.710 GeneticVariation BEFREE The arginine-552-cysteine (R1315C) mutation within the A1 loop of von Willebrand factor induces an abnormal folding with a loss of function resulting in type 2A-like phenotype of von Willebrand disease: study of 10 patients and mutated recombinant von Willebrand factor. 11159522 2001