DisGeNET - a database of gene-disease associations

List of associated variants

Leigh Disease, C0023264

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
rs782609482	SURF1	1.000	0.120	9	133352060	splice donor variant	C/A;T	snv	4.1E-06		4
rs1556423547	ND4L ; ATP8 ; ND3 ; ATP6 ; COX3 ; ND4	1.000	0.120	MT	8839	missense variant	G/A;C	snv			2
rs1564349087	SURF1	1.000	0.120	9	133353760	stop gained	G/T	snv			2
rs113994093	POLG	1.000	0.120	15	89330241	missense variant	C/T	snv	1.2E-05	1.4E-05	1
rs1267554976	NDUFS8	1.000	0.120	11	68036321	start lost	G/A;C	snv		3.5E-05	1
rs1319811735	SURF1	1.000	0.120	9	133352493	missense variant	A/G	snv	4.0E-06		1
rs1352878283	NCAPH2 ; SCO2	1.000	0.120	22	50523639	missense variant	A/G	snv		7.0E-06	1
rs1391748504	SURF1	1.000	0.120	9	133352143	splice acceptor variant	C/G	snv		7.0E-06	1
rs1410388157	SURF2 ; SURF1	1.000	0.120	9	133356415	frameshift variant	-/GCAGCCC	delins			1
rs147816470	SURF1	1.000	0.120	9	133352696	stop gained	G/A	snv	8.0E-06	2.1E-05	1
rs149481081	TIMMDC1	1.000	0.120	3	119517281	stop gained	C/G;T	snv	8.0E-06; 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
rs1554768246	SURF1	1.000	0.120	9	133352134	frameshift variant	-/T	delins			1
rs1554768333	SURF1	1.000	0.120	9	133352565	frameshift variant	CT/-	delins			1
rs1556423632	ND3 ; COX3 ; ND4 ; ATP6 ; ND4L	1.000	0.120	MT	9191	missense variant	T/C	snv			1
rs373436822	IARS2	1.000	0.120	1	220126827	stop gained	G/A	snv	4.0E-06		1
rs587776434	ND2 ; ND1	1.000	0.120	MT	3890	missense variant	G/A	snv			1
rs587776435	COX1 ; TRNW ; ND2	1.000	0.120	MT	5523	non coding transcript exon variant	T/G	snv			1
rs587776437	ND3 ; ATP6 ; COX3 ; ND4 ; ND4L	1.000	0.120	MT	9478	missense variant	T/C	snv			1
rs587776438	ND4 ; ND3 ; ND4L ; COX3	1.000	0.120	MT	10254	missense variant	G/A	snv			1
rs587776440	CYTB ; ND5	1.000	0.120	MT	13514	missense variant	A/G	snv			1
rs587776441	ND1 ; TRNV	1.000	0.120	MT	1644	non coding transcript exon variant	G/T	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