DisGeNET - a database of gene-disease associations

List of associated variants

Leigh Disease, C0023264

Source: CURATED ×

Results per page

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
rs398122972	C12orf65 ; CDK2AP1	0.925	0.120	12	123256876	frameshift variant	G/-	del			1
rs587776435	COX1 ; TRNW ; ND2	1.000	0.120	MT	5523	non coding transcript exon variant	T/G	snv			1
rs587776444	COX3 ; ND3 ; ATP6 ; ATP8 ; ND4 ; ND4L	1.000	0.120	MT	8989	missense variant	G/C	snv			1
rs587780529	COX3 ; ND3 ; ND4L ; ND4	1.000	0.120	MT	10134	missense variant	C/A	snv			1
rs587776440	CYTB ; ND5	1.000	0.120	MT	13514	missense variant	A/G	snv			1
rs121909366	GHR	0.925	0.200	5	42699892	missense variant	G/C	snv	1.2E-05		1
rs373436822	IARS2	1.000	0.120	1	220126827	stop gained	G/A	snv	4.0E-06		1
rs565224393	NARS2	0.882	0.200	11	78469304	stop gained	A/C;G;T	snv	4.0E-06; 4.0E-06		1
rs1352878283	NCAPH2 ; SCO2	1.000	0.120	22	50523639	missense variant	A/G	snv		7.0E-06	1
rs587776441	ND1 ; TRNV	1.000	0.120	MT	1644	non coding transcript exon variant	G/T	snv			1
rs587776434	ND2 ; ND1	1.000	0.120	MT	3890	missense variant	G/A	snv			1
rs587776437	ND3 ; ATP6 ; COX3 ; ND4 ; ND4L	1.000	0.120	MT	9478	missense variant	T/C	snv			1
rs1556423632	ND3 ; COX3 ; ND4 ; ATP6 ; ND4L	1.000	0.120	MT	9191	missense variant	T/C	snv			1
rs587776438	ND4 ; ND3 ; ND4L ; COX3	1.000	0.120	MT	10254	missense variant	G/A	snv			1
rs199476112	ND4 ; ND5	0.925	0.160	MT	11778	missense variant	G/A	snv			1
rs104894885	NDUFA1 ; RNF113A	0.851	0.120	X	119873312	missense variant	G/A;C	snv			1
rs772294726	NDUFAF2	1.000	0.120	5	61098995	stop gained	G/A	snv	2.0E-05	1.4E-05	1
rs762620949	NDUFAF6	1.000	0.120	8	95048461	missense variant	G/A;T	snv	4.0E-06	7.0E-06	1
rs150667550	NDUFS2	0.925	0.120	1	161210599	missense variant	T/C	snv	3.5E-04	1.1E-04	1
rs104894270	NDUFS3	0.882	0.160	11	47582436	missense variant	C/T	snv	1.6E-05	2.8E-05	1
rs28939714	NDUFS3	0.882	0.160	11	47582140	missense variant	C/G;T	snv	4.0E-06		1
rs1554059248	NDUFS4	1.000	0.120	5	53646231	splice acceptor variant	A/G	snv			1
rs1554062427	NDUFS4	1.000	0.120	5	53683163	frameshift variant	CC/-	del			1
rs104894705	NDUFS7	0.925	0.120	19	1391006	missense variant	G/A	snv	5.6E-05	8.4E-05	1
rs1267554976	NDUFS8	1.000	0.120	11	68036321	start lost	G/A;C	snv		3.5E-05	1