GLI2, GLI family zinc finger 2, 2736

N. diseases: 351; N. variants: 37
Disease: CULLER-JONES SYNDROME ×
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: rs1558937172
rs1558937172 		0.925 0.160 2 120984744 splice donor variant G/A snv
CUI: C4014479
Disease: CULLER-JONES SYNDROME
CULLER-JONES SYNDROME 		0.700 1.000 2 2003 2010
dbSNP: rs114814747
rs114814747 		1.000 2 120990472 missense variant G/A;C snv 9.4E-03; 4.0E-06
CUI: C4014479
Disease: CULLER-JONES SYNDROME
CULLER-JONES SYNDROME 		0.700 0
dbSNP: rs1388607733
rs1388607733 		0.925 0.160 2 120927402 frameshift variant -/T delins
CUI: C4014479
Disease: CULLER-JONES SYNDROME
CULLER-JONES SYNDROME 		0.700 0
dbSNP: rs149140724
rs149140724 		1.000 2 120989968 missense variant A/G snv 8.6E-03 9.6E-03
CUI: C4014479
Disease: CULLER-JONES SYNDROME
CULLER-JONES SYNDROME 		0.700 0
dbSNP: rs149800897
rs149800897 		1.000 2 120984610 missense variant C/A;T snv 8.0E-06; 2.0E-05
CUI: C4014479
Disease: CULLER-JONES SYNDROME
CULLER-JONES SYNDROME 		0.700 0
dbSNP: rs1553471273
rs1553471273 		0.925 0.160 2 120951309 frameshift variant G/- delins
CUI: C4014479
Disease: CULLER-JONES SYNDROME
CULLER-JONES SYNDROME 		0.700 0
dbSNP: rs1553478423
rs1553478423 		1.000 2 120988228 frameshift variant A/- del
CUI: C4014479
Disease: CULLER-JONES SYNDROME
CULLER-JONES SYNDROME 		0.700 0
dbSNP: rs374155310
rs374155310 		1.000 2 120972019 stop gained G/A;C;T snv 1.2E-05; 4.0E-06
CUI: C4014479
Disease: CULLER-JONES SYNDROME
CULLER-JONES SYNDROME 		0.700 0
dbSNP: rs587777455
rs587777455 		1.000 2 120988273 frameshift variant CTGTCGG/- delins
CUI: C4014479
Disease: CULLER-JONES SYNDROME
CULLER-JONES SYNDROME 		0.700 0
dbSNP: rs587777456
rs587777456 		1.000 2 120986401 frameshift variant TGAC/- delins
CUI: C4014479
Disease: CULLER-JONES SYNDROME
CULLER-JONES SYNDROME 		0.700 0