DisGeNET - a database of gene-disease associations

List of associated variants

Mitochondrial Diseases, C0751651

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
rs1566433812	OXA1L ; LOC105370404			14	22768050	frameshift variant	-/CAGAGCAG	delins			1
rs797046003	SPG7	1.000	0.080	16	89529575	splice donor variant	-/T	delins			2
rs775256289	YARS2			12	32750046	inframe insertion	-/TGATCAGACATGACCTCC	delins	1.6E-05		1
rs515726199	RRM2B	1.000	0.200	8	102208239	frameshift variant	A/-	delins			2
rs763006208	SMDT1 ; NDUFA6	1.000		22	42086261	frameshift variant	A/-	delins		1.1E-04	2
rs886037835	TMEM126B	1.000		11	85635669	frameshift variant	A/-	delins			2
rs199474657	TRNL1 ; ND1 ; ND2	0.752	0.360	MT	3243	non coding transcript exon variant	A/G	snv			15
rs1556424691	CYTB ; ND6 ; TRNT	0.851	0.200	MT	15923	non coding transcript exon variant	A/G	snv			13
rs118192098	TRNK ; COX3 ; COX2 ; ATP6 ; ATP8 ; ND3	0.851	0.200	MT	8344	non coding transcript exon variant	A/G	snv			5
rs28937590	BCS1L ; ZNF142	0.807	0.360	2	218661219	missense variant	A/G	snv	4.7E-04	4.1E-04	4
rs143319805	OPA1	0.807	0.320	3	193643378	missense variant	A/G	snv	6.2E-04	5.7E-04	3
rs387906899	OPA1	1.000		3	193643609	missense variant	A/G	snv			2
rs875989831	TRMT10C	1.000		3	101565595	missense variant	A/G	snv			2
rs2853493	ND4 ; ND5			MT	11467	synonymous variant	A/G	snv			1
rs369227537	SPG7	1.000	0.080	16	89550502	stop gained	A/T	snv	1.4E-04	9.8E-05	2
rs863224028	NOXO1 ; GFER			16	1984415	frameshift variant	C/-	delins			1
rs1554887028	MRPL43 ; TWNK			10	100989213	missense variant	C/A	snv			1
rs398124298	LOC102724808 ; OPA1	0.925	0.160	3	193647110	missense variant	C/A;G	snv			3
rs886037773	RMND1			6	151405719	splice donor variant	C/A;G	snv	4.0E-06		1
rs758833609	NDUFA6 ; SMDT1	1.000		22	42086305	stop gained	C/A;T	snv	8.0E-06; 4.4E-05		2
rs752169833	CHCHD2	0.925	0.040	7	56102878	missense variant	C/A;T	snv	8.0E-06; 5.6E-05		1
rs113994097	POLG	0.724	0.400	15	89323426	missense variant	C/G	snv	9.7E-04	7.9E-04	5
rs886041082	SLC25A4	1.000		4	185145863	missense variant	C/G	snv			2
rs121918054	POLG	0.807	0.240	15	89323460	missense variant	C/G;T	snv	6.9E-04; 4.0E-06		7
rs115079861	RMND1	1.000		6	151405236	stop lost	C/G;T	snv	2.0E-05; 4.0E-03		3