Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1114167354
rs1114167354
C 0.800 CausalMutation CLINVAR Rare Deleterious PARD3 Variants in the aPKC-Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects Via Disrupting Apical Tight Junction Formation. 27925688

2017

dbSNP: rs1114167354
rs1114167354
0.800 GeneticVariation UNIPROT