Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060499558
rs1060499558
G 0.700 CausalMutation CLINVAR Complex postaxial polydactyly types A and B with camptodactyly, hypoplastic third toe, zygodactyly and other digit anomalies caused by a novel GLI3 mutation. 28315472

2017

dbSNP: rs121917710
rs121917710
0.700 GeneticVariation UNIPROT The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations. 10441570

1999

dbSNP: rs1057518698
rs1057518698
G 0.700 CausalMutation CLINVAR Mutation in GLI3 in postaxial polydactyly type A. 9354785

1997