Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315378
rs74315378
0.710 GeneticVariation BEFREE The methionine 86 arginine (M86R) TPIT mutation was recently identified in compound heterozygosity with the 782delA frame-shift mutation in two siblings with early-onset IAD. 17652218

2007

dbSNP: rs74315378
rs74315378
G 0.710 CausalMutation CLINVAR