Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs116840766
rs116840766
GLI3
T 0.700 CausalMutation CLINVAR Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma. 27231705

2016
dbSNP: rs116840766
rs116840766
GLI3
T 0.700 CausalMutation CLINVAR New insights into genotype-phenotype correlation for GLI3 mutations. 24736735

2015
dbSNP: rs116840766
rs116840766
GLI3
T 0.700 CausalMutation CLINVAR Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. 15739154

2005