DisGeNET - a database of gene-disease associations

List of associated variants

Leigh Disease, C0023264

Source: CURATED ×

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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
rs149718203	CUTC ; COX15	0.925	0.120	10	99727098	stop gained	G/C	snv	2.5E-04	2.9E-04	2
rs150667550	NDUFS2	0.925	0.120	1	161210599	missense variant	T/C	snv	3.5E-04	1.1E-04	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
rs1556423547	ND4L ; ATP8 ; ND3 ; ATP6 ; COX3 ; ND4	1.000	0.120	MT	8839	missense variant	G/A;C	snv			2
rs1556423632	ND3 ; COX3 ; ND4 ; ATP6 ; ND4L	1.000	0.120	MT	9191	missense variant	T/C	snv			1
rs1564349087	SURF1	1.000	0.120	9	133353760	stop gained	G/T	snv			2
rs199474657	TRNL1 ; ND1 ; ND2	0.752	0.360	MT	3243	non coding transcript exon variant	A/G	snv			15
rs199474672	ND2 ; COX1 ; TRNW	0.925	0.160	MT	5537	non coding transcript exon variant	-/T	ins			2
rs199476104	ND6 ; CYTB ; ND5	0.925	0.160	MT	14484	missense variant	T/C	snv			2
rs199476105	ND5 ; CYTB ; ND6	0.851	0.200	MT	14459	missense variant	G/A	snv			4
rs199476107	ND5 ; ND6 ; CYTB	0.925	0.200	MT	14453	missense variant	G/A	snv			2
rs199476109	ND6 ; CYTB ; ND5	0.882	0.120	MT	14487	missense variant	T/C	snv			3
rs199476112	ND4 ; ND5	0.925	0.160	MT	11778	missense variant	G/A	snv			1
rs199476117	ND3 ; ND4 ; ND4L ; COX3	0.925	0.120	MT	10158	missense variant	T/C	snv			2
rs199476118	ND1 ; ND2	0.925	0.160	MT	3460	missense variant	G/A	snv			3
rs199476123	ND2 ; ND1 ; COX1	0.882	0.200	MT	3946	missense variant	G/A	snv			2
rs199476133	ND3 ; COX3 ; ND4L ; ND4 ; ATP8 ; ATP6	0.742	0.320	MT	8993	missense variant	T/C;G	snv			14
rs199476135	ND4 ; ND4L ; ND3 ; COX3 ; ATP6	0.882	0.120	MT	9176	missense variant	T/C;G	snv			3
rs199476136	ATP8 ; ND3 ; COX3 ; ND4 ; ATP6 ; ND4L	0.925	0.120	MT	8851	missense variant	T/C	snv			2
rs199476138	ND3 ; COX3 ; ND4 ; ND4L ; ATP6	0.882	0.120	MT	9185	missense variant	T/C	snv			4
rs199476144	ND1 ; TRNV	0.925	0.200	MT	1624	non coding transcript exon variant	C/T	snv			3
rs201431517	MTFMT	0.827	0.200	15	65021533	missense variant	G/A	snv	3.5E-04	5.7E-04	17