Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61753997
rs61753997
VWF
0.700 GeneticVariation UNIPROT Type 1 von Willebrand disease mutation Cys1149Arg causes intracellular retention and degradation of heterodimers: a possible general mechanism for dominant mutations of oligomeric proteins. 11698279

2001
dbSNP: rs61753997
rs61753997
VWF
0.700 GeneticVariation UNIPROT A novel von Willebrand disease-causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion. 10887119

2000