GLI1, GLI family zinc finger 1, 2735

N. diseases: 369; N. variants: 14
Disease: POLYDACTYLY, POSTAXIAL, TYPE A8 ×
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: rs1309855392
rs1309855392 		1.000 12 57471080 stop gained G/A snv
CUI: C4748277
Disease: POLYDACTYLY, POSTAXIAL, TYPE A8
POLYDACTYLY, POSTAXIAL, TYPE A8 		0.700 0
dbSNP: rs1565601979
rs1565601979 		1.000 12 57470670 stop gained C/T snv
CUI: C4748277
Disease: POLYDACTYLY, POSTAXIAL, TYPE A8
POLYDACTYLY, POSTAXIAL, TYPE A8 		0.700 0
dbSNP: rs748321474
rs748321474 		1.000 12 57464816 stop gained C/A;T snv 4.0E-06; 4.0E-06
CUI: C4748277
Disease: POLYDACTYLY, POSTAXIAL, TYPE A8
POLYDACTYLY, POSTAXIAL, TYPE A8 		0.700 0