DisGeNET - a database of gene-disease associations

List of associated variants

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, C3541471

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
rs28937590	BCS1L ; ZNF142	0.807	0.360	2	218661219	missense variant	A/G	snv	4.7E-04	4.1E-04	8
rs121908572	ZNF142 ; BCS1L	0.882	0.280	2	218661283	missense variant	C/T	snv			4
rs121908576	ZNF142 ; BCS1L	0.851	0.360	2	218661153	stop gained	C/T	snv	1.7E-04	2.9E-04	4
rs121908578	BCS1L	0.882	0.200	2	218661848	missense variant	C/T	snv	1.8E-04	1.0E-04	3
rs144885874	BCS1L	0.925	0.040	2	218661845	missense variant	C/T	snv	1.2E-05	7.7E-05	2
rs121908571	BCS1L	1.000		2	218662620	missense variant	G/A	snv			1
rs121908573	BCS1L	1.000		2	218661762	missense variant	G/A;C	snv	4.0E-06		1
rs121908574	BCS1L	1.000		2	218663183	missense variant	G/A	snv	1.6E-05	7.0E-06	1
rs776838028	BCS1L	1.000		2	218661896	stop gained	C/T	snv	4.0E-06	3.5E-05	1
rs1057521059	ZNF142 ; BCS1L	1.000		2	218661470	missense variant	G/A	snv			1
rs121908575	ZNF142 ; BCS1L	1.000		2	218661120	missense variant	C/G;T	snv	8.0E-06; 1.2E-05		1
rs121908580	ZNF142 ; BCS1L	1.000		2	218661135	missense variant	A/G	snv			1
rs140812286	ZNF142 ; BCS1L	1.000		2	218661204	missense variant	C/G;T	snv	1.6E-04	4.9E-05	1