Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121964895
rs121964895
VWF
0.720 GeneticVariation BEFREE Dominant VWD type 1 Vicenza is a qualitative defect with normal secretion but rapid clearance with equally low levels of FVIII:C, VWF:Ag, VWF:RCo, VWF:CB and the presence of unusually large VWF multimers in plasma due to a specific mutation (R1205H) in the D3 domain. 19506352

2009
dbSNP: rs121964895
rs121964895
VWF
0.720 GeneticVariation BEFREE VWD type 1 Vicenza is caused by the R1205H mutation in the D3 domain and characterized by equally low levels of FVIII:C, VWF:Ag and VWF:RCo. 19506359

2009
dbSNP: rs121964895
rs121964895
VWF
T 0.720 CausalMutation CLINVAR