DisGeNET - a database of gene-disease associations

List of associated variants

Mitochondrial Myopathies, C0162670

Source: ALL

Results per page

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
rs121912438	SOD1	0.605	0.520	21	31667299	missense variant	G/A;C;T	snv	1.2E-05; 8.0E-06		58
rs121912683	SLC25A4	0.851	0.200	4	185145020	missense variant	C/A	snv	4.0E-06	7.0E-06	9
rs587777574	CHCHD10 ; LOC107985577	0.882	0.040	22	23767459	missense variant	G/A	snv			4
rs746686166	COX5B	0.925	0.280	2	97646179	missense variant	G/A;T	snv	6.7E-06		4
rs201078173	SDS	0.925	0.280	12	113399616	missense variant	C/T	snv	8.6E-06	7.0E-05	4
rs267607190	ISCU	1.000	0.120	12	108564313	missense variant	G/A;C	snv	1.2E-05; 4.0E-06		3
rs137854431	TK2	0.925		16	66531432	missense variant	G/A	snv	4.4E-05	1.3E-04	3
rs747453853	CHEK2 ; HSCB			22	28742247	missense variant	G/A	snv	4.0E-06		2
rs121434458	COX1 ; ND2 ; COX2 ; TRNA	1.000	0.200	MT	5591	non coding transcript exon variant	G/A	snv			2
rs1389068504	SLC25A21	1.000	0.040	14	36684834	missense variant	T/C	snv	4.0E-06		2
rs199474673	TRNW ; ND2 ; COX1	1.000	0.200	MT	5521	non coding transcript exon variant	G/A	snv			2
rs111677724	C22orf15 ; CHCHD10 ; LOC107985577			22	23766251	missense variant	G/T	snv	1.3E-02		1
rs786200951	COX1 ; ND2 ; COX2 ; TRNA			MT	5610	non coding transcript exon variant	G/A	snv			1
rs118203884	ND2 ; COX1 ; TRNM ; ND1			MT	4409	non coding transcript exon variant	T/C	snv			1
rs786200950	ND2 ; COX2 ; TRNA ; COX1			MT	5631	non coding transcript exon variant	G/A	snv			1
rs121434463	ND5 ; ND4 ; TRNL2			MT	12320	non coding transcript exon variant	A/G	snv			1
rs587777600	RAVER1 ; FDX2			19	10315996	missense variant	T/A;G	snv			1
rs864321624	SLC25A42			19	19110790	missense variant	A/G	snv			1
rs888630930	ZGLP1 ; FDX2			19	10310616	missense variant	G/A	snv			1