GLI3, GLI family zinc finger 3, 2737

N. diseases: 400; N. variants: 73
Disease: POSTAXIAL POLYDACTYLY, TYPE A1/B ×
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: rs121917709
rs121917709 		0.882 0.160 7 41972513 stop gained G/A snv
CUI: C4016298
Disease: POSTAXIAL POLYDACTYLY, TYPE A1/B
POSTAXIAL POLYDACTYLY, TYPE A1/B 		0.700 0
dbSNP: rs398122899
rs398122899 		1.000 7 41978629 frameshift variant CT/- delins
CUI: C4016298
Disease: POSTAXIAL POLYDACTYLY, TYPE A1/B
POSTAXIAL POLYDACTYLY, TYPE A1/B 		0.700 0