GLI3, GLI family zinc finger 3, 2737

N. diseases: 400; N. variants: 73
Disease: Polydactyly, Postaxial, Type A1 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057518698
rs1057518698 		1.000 0.080 7 41967775 frameshift variant T/- del
CUI: C4282400
Disease: Polydactyly, Postaxial, Type A1
Polydactyly, Postaxial, Type A1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 1997 1997
dbSNP: rs1060499558
rs1060499558 		0.925 0.080 7 41965438 frameshift variant C/- delins
CUI: C4282400
Disease: Polydactyly, Postaxial, Type A1
Polydactyly, Postaxial, Type A1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs121917710
rs121917710 		0.925 0.080 7 41967848 missense variant C/T snv 5.3E-03 5.1E-03
CUI: C4282400
Disease: Polydactyly, Postaxial, Type A1
Polydactyly, Postaxial, Type A1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 1999 1999