Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs41276738
rs41276738
VWF
0.710 GeneticVariation BEFREE 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
dbSNP: rs41276738
rs41276738
VWF
T 0.710 CausalMutation CLINVAR