Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917710
rs121917710
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C4282400
Disease:
Polydactyly, Postaxial, Type A1
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