DisGeNET - a database of gene-disease associations

List of associated variants

Cerebrooculofacioskeletal Syndrome 1, C0220722

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
rs376526037	ERCC6	0.776	0.440	10	49483504	stop gained	G/A	snv	1.6E-05	2.8E-05	8
rs121917901	ERCC6	0.790	0.440	10	49478437	stop gained	G/A	snv	7.2E-05	4.9E-05	7
rs373227647	ERCC6	0.790	0.440	10	49472472	splice acceptor variant	T/C	snv	8.0E-06	7.0E-06	7
rs121917902	ERCC6 ; PGBD3	0.790	0.440	10	49524073	stop gained	G/A	snv			7
rs185142838	ERCC6	0.851	0.400	10	49461473	stop gained	G/A	snv	1.4E-04	9.1E-05	5
rs121913028	ERCC1	0.851	0.400	19	45414870	missense variant	G/A;C	snv	1.2E-05; 1.6E-05		4
rs121913023	ERCC2	0.851	0.400	19	45352511	missense variant	C/T	snv	2.0E-05	1.4E-05	4
rs121913024	ERCC2	0.851	0.400	19	45352802	missense variant	G/A	snv	5.6E-05	3.5E-05	4
rs875989810	ERCC6	0.851	0.400	10	49528426	stop gained	C/A	snv			4
rs121913019	ERCC2	0.925	0.240	19	45354774	missense variant	T/C;G	snv	4.0E-06		3
rs1198472093	ERCC6	0.882	0.400	10	49532542	splice donor variant	C/G;T	snv	8.0E-06	2.1E-05	3
rs1228919836	ERCC6	0.882	0.400	10	49493116	splice donor variant	C/T	snv	4.0E-06	1.4E-05	3
rs1287286877	ERCC6	0.882	0.400	10	49470367	frameshift variant	-/TC	delins	4.0E-06		3
rs1317145066	ERCC6	0.882	0.400	10	49506014	splice acceptor variant	T/C	snv	4.0E-06	7.0E-06	3
rs1362935450	ERCC6	0.882	0.400	10	49478353	splice donor variant	C/T	snv			3
rs1386369933	ERCC6	0.882	0.400	10	49461463	frameshift variant	-/G	delins		7.0E-06	3
rs1441655600	ERCC6	0.882	0.400	10	49482686	splice donor variant	C/T	snv			3
rs1554787509	ERCC6	0.882	0.400	10	49474065	stop gained	G/A	snv			3
rs1554787554	ERCC6	0.882	0.400	10	49474243	splice acceptor variant	C/T	snv			3
rs1554788393	ERCC6	0.882	0.240	10	49482818	missense variant	T/C	snv			3
rs1554789393	ERCC6	0.882	0.400	10	49493117	frameshift variant	C/TT	delins			3
rs1554794073	ERCC6	0.882	0.400	10	49528527	splice acceptor variant	T/C	snv			3
rs1554794360	ERCC6	0.882	0.400	10	49530824	frameshift variant	G/-	delins			3
rs1554794620	ERCC6	0.882	0.400	10	49532705	frameshift variant	GC/-	delins			3
rs1554794640	ERCC6	0.882	0.400	10	49532751	frameshift variant	G/-	delins			3