DisGeNET - a database of gene-disease associations

List of associated variants

Mitochondrial Diseases, C0751651

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
rs1003624852	CYC1			8	144096675	missense variant	C/G;T	snv	4.0E-06; 8.0E-06		1
rs1023075742	SMDT1 ; NDUFA6-DT ; NDUFA6	1.000		22	42090742	start lost	C/T	snv	4.0E-06	2.1E-05	2
rs111033573	MRPL43 ; TWNK	1.000	0.200	10	100989285	missense variant	G/A;T	snv			2
rs111033577	MRPL43 ; TWNK	1.000	0.200	10	100989352	missense variant	T/C;G	snv			2
rs1131691575	POLG ; FANCI	0.925	0.080	15	89317469	missense variant	C/T	snv	8.0E-06	1.4E-05	3
rs1131692061	ND4 ; ND5 ; TRNL2			MT	12271	non coding transcript exon variant	T/C	snv			1
rs1131692062	ND4 ; TRNL2 ; ND5			MT	12283	non coding transcript exon variant	G/A	snv			1
rs1131692063	CYTB ; ND5	1.000	0.160	MT	13051	missense variant	G/A	snv			2
rs1131692064	ATP8 ; COX2 ; COX3 ; ATP6			MT	7989	missense variant	T/C	snv			1
rs113994095	POLG ; MIR6766	0.701	0.360	15	89327201	missense variant	C/T	snv	5.1E-04	6.7E-04	31
rs113994096	POLG	0.827	0.080	15	89325639	missense variant	G/A	snv	1.5E-03	1.6E-03	8
rs113994097	POLG	0.724	0.400	15	89323426	missense variant	C/G	snv	9.7E-04	7.9E-04	22
rs113994099	POLG	0.827	0.240	15	89320883	missense variant	T/C	snv			10
rs115079861	RMND1	1.000		6	151405236	stop lost	C/G;T	snv	2.0E-05; 4.0E-03		3
rs118192098	TRNK ; COX3 ; COX2 ; ATP6 ; ATP8 ; ND3	0.851	0.200	MT	8344	non coding transcript exon variant	A/G	snv			5
rs121434453	TRNE ; ND6 ; CYTB	0.882	0.320	MT	14709	non coding transcript exon variant	T/C	snv			4
rs121908572	ZNF142 ; BCS1L	0.882	0.280	2	218661283	missense variant	C/T	snv			4
rs121918046	POLG	0.925	0.160	15	89325520	missense variant	G/A	snv		1.4E-05	4
rs121918054	POLG	0.807	0.240	15	89323460	missense variant	C/G;T	snv	6.9E-04; 4.0E-06		8
rs1365700579	YARS2			12	32750105	missense variant	C/G;T	snv	8.0E-06		1
rs143319805	OPA1	0.807	0.320	3	193643378	missense variant	A/G	snv	6.2E-04	5.7E-04	12
rs144972972	RMND1	1.000		6	151430154	missense variant	T/C	snv	2.0E-04	2.4E-04	2
rs1553877864	OPA1			3	193643430	missense variant	C/T	snv			1
rs1554042187	GFM2			5	74758878	missense variant	T/G	snv			1
rs1554887028	MRPL43 ; TWNK			10	100989213	missense variant	C/A	snv			1