Gene: GLI3 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057520063
rs1057520063
GLI3
CA 0.700 CausalMutation CLINVAR GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families. 26508445

2016
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: rs1057520063
rs1057520063
GLI3
CA 0.700 CausalMutation CLINVAR New insights into genotype-phenotype correlation for GLI3 mutations. 24736735

2015
dbSNP: rs116840766
rs116840766
GLI3
T 0.700 CausalMutation CLINVAR New insights into genotype-phenotype correlation for GLI3 mutations. 24736735

2015
dbSNP: rs116840770
rs116840770
GLI3
A 0.700 CausalMutation CLINVAR New insights into genotype-phenotype correlation for GLI3 mutations. 24736735

2015
dbSNP: rs1554306094
rs1554306094
GLI3
T 0.700 CausalMutation CLINVAR New insights into genotype-phenotype correlation for GLI3 mutations. 24736735

2015
dbSNP: rs1057520063
rs1057520063
GLI3
CA 0.700 CausalMutation CLINVAR Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. 20672375

2010
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
dbSNP: rs1375768446
rs1375768446
GLI3
T 0.700 GeneticVariation 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
dbSNP: rs1554306094
rs1554306094
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
dbSNP: rs1375768446
rs1375768446
GLI3
T 0.700 GeneticVariation CLINVAR 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: rs116840742
rs116840742
GLI3
A 0.700 CausalMutation CLINVAR

dbSNP: rs116840743
rs116840743
GLI3
T 0.700 CausalMutation CLINVAR

dbSNP: rs116840744
rs116840744
GLI3
T 0.700 CausalMutation CLINVAR

dbSNP: rs116840745
rs116840745
GLI3
T 0.700 CausalMutation CLINVAR

dbSNP: rs116840746
rs116840746
GLI3
AT 0.700 CausalMutation CLINVAR

dbSNP: rs116840747
rs116840747
GLI3
A 0.700 CausalMutation CLINVAR

dbSNP: rs116840748
rs116840748
GLI3
A 0.700 CausalMutation CLINVAR

dbSNP: rs116840749
rs116840749
GLI3
T 0.700 CausalMutation CLINVAR

dbSNP: rs116840750
rs116840750
GLI3
A 0.700 CausalMutation CLINVAR

dbSNP: rs116840751
rs116840751
GLI3
A 0.700 CausalMutation CLINVAR

dbSNP: rs116840752
rs116840752
GLI3
T 0.700 CausalMutation CLINVAR

dbSNP: rs116840753
rs116840753
GLI3
TG 0.700 CausalMutation CLINVAR

dbSNP: rs116840754
rs116840754
GLI3
C 0.700 CausalMutation CLINVAR

dbSNP: rs116840755
rs116840755
GLI3
G 0.700 CausalMutation CLINVAR