Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61750074
rs61750074
VWF
0.020 GeneticVariation BEFREE von Willebrand disease type 1 mutation p.Arg1379Cys and the variant p.Ala1377Val synergistically determine a 2M phenotype in four Italian patients. 27785872

2016
dbSNP: rs61750074
rs61750074
VWF
0.020 GeneticVariation BEFREE The amino acid change C1227R, predicted by the mutation 4135C-->T, was identified as a compound heterozygote in a patient with moderately severe type 1 vWD. 11325649

2001