DisGeNET - a database of gene-disease associations

List of associated variants

CULLER-JONES SYNDROME, C4014479

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs879255280	SMO	0.701	0.200	7	129206557	missense variant	C/T	snv			22
rs1553471273	GLI2	0.925	0.160	2	120951309	frameshift variant	G/-	delins			3
rs1388607733	GLI2	0.925	0.160	2	120927402	frameshift variant	-/T	delins			2
rs1558937172	GLI2	0.925	0.160	2	120984744	splice donor variant	G/A	snv			2
rs114814747	GLI2	1.000		2	120990472	missense variant	G/A;C	snv	9.4E-03; 4.0E-06		1
rs149140724	GLI2	1.000		2	120989968	missense variant	A/G	snv	8.6E-03	9.6E-03	1
rs149800897	GLI2	1.000		2	120984610	missense variant	C/A;T	snv	8.0E-06; 2.0E-05		1
rs1553478423	GLI2	1.000		2	120988228	frameshift variant	A/-	del			1
rs374155310	GLI2	1.000		2	120972019	stop gained	G/A;C;T	snv	1.2E-05; 4.0E-06		1
rs587777455	GLI2	1.000		2	120988273	frameshift variant	CTGTCGG/-	delins			1
rs587777456	GLI2	1.000		2	120986401	frameshift variant	TGAC/-	delins			1