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
rs199476138	ND3 ; COX3 ; ND4 ; ND4L ; ATP6	0.882	0.120	MT	9185	missense variant	T/C	snv			4
rs199476133	ND3 ; COX3 ; ND4L ; ND4 ; ATP8 ; ATP6	0.742	0.320	MT	8993	missense variant	T/C;G	snv			18
rs2853493	ND4 ; ND5			MT	11467	synonymous variant	A/G	snv			1
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
rs1556423547	ND4L ; ATP8 ; ND3 ; ATP6 ; COX3 ; ND4	1.000	0.120	MT	8839	missense variant	G/A;C	snv			2
rs2853499	ND5 ; ND4			MT	12372	synonymous variant	G/A	snv			1
rs1569463838	NDUFA6 ; SMDT1	1.000		22	42086238	frameshift variant	CT/-	delins			2
rs750830935	NDUFA6 ; SMDT1	1.000		22	42087124	missense variant	C/G;T	snv	1.1E-04	1.4E-05	2
rs758833609	NDUFA6 ; SMDT1	1.000		22	42086305	stop gained	C/A;T	snv	8.0E-06; 4.4E-05		2
rs863224028	NOXO1 ; GFER			16	1984415	frameshift variant	C/-	delins			1
rs143319805	OPA1	0.807	0.320	3	193643378	missense variant	A/G	snv	6.2E-04	5.7E-04	12
rs80356529	OPA1	0.827	0.240	3	193643996	missense variant	G/A;C	snv			9
rs387906899	OPA1	1.000		3	193643609	missense variant	A/G	snv			2
rs1553877864	OPA1			3	193643430	missense variant	C/T	snv			1
rs80356530	OPA1 ; LOC102724808	0.882	0.320	3	193667168	splice region variant	TTAG/-	delins			4
rs772751581	OXA1L			14	22769791	missense variant	G/T	snv	4.0E-06		1
rs1566433812	OXA1L ; LOC105370404			14	22768050	frameshift variant	-/CAGAGCAG	delins			1
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
rs113994096	POLG	0.827	0.080	15	89325639	missense variant	G/A	snv	1.5E-03	1.6E-03	8
rs121918054	POLG	0.807	0.240	15	89323460	missense variant	C/G;T	snv	6.9E-04; 4.0E-06		8
rs2307441	POLG	0.882	0.080	15	89318595	missense variant	T/C	snv	2.9E-02	2.7E-02	6
rs121918046	POLG	0.925	0.160	15	89325520	missense variant	G/A	snv		1.4E-05	4
rs1131691575	POLG ; FANCI	0.925	0.080	15	89317469	missense variant	C/T	snv	8.0E-06	1.4E-05	3