DisGeNET - a database of gene-disease associations

List of associated variants

Leigh Syndrome due to Mitochondrial Complex IV Deficiency, C1850599

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
rs782316919	SURF1	0.827	0.160	9	133351970	frameshift variant	AG/-	delins		8.4E-05	9
rs28939711	CUTC ; COX15	0.851	0.120	10	99724057	missense variant	G/A	snv	3.2E-05	3.5E-05	5
rs397514662	CUTC ; COX15	0.882	0.120	10	99716419	missense variant	A/C;G	snv	1.2E-05		4
rs782490558	SURF1	0.882	0.120	9	133352101	frameshift variant	CT/-	delins	1.6E-05	3.5E-05	3
rs863224228	SURF1 ; SURF2	0.882	0.120	9	133354661	frameshift variant	GGCTGGCAGA/AT	delins			3
rs104894557	COX10	0.925	0.120	17	14206888	missense variant	A/G;T	snv	8.0E-05		2
rs149718203	CUTC ; COX15	0.925	0.120	10	99727098	stop gained	G/C	snv	2.5E-04	2.9E-04	2
rs121918657	SURF1	0.925	0.120	9	133352446	stop gained	G/A	snv	1.2E-05		2
rs121918658	SURF1	0.925	0.120	9	133352074	missense variant	A/C	snv			2
rs28933402	SURF1	0.925	0.120	9	133353893	missense variant	C/T	snv			2
rs398122806	SURF1	0.925	0.120	9	133352518	missense variant	A/G	snv			2
rs387906383	COX10 ; COX10-AS1	1.000	0.120	17	14069607	start lost	T/C	snv			1