DisGeNET - a database of gene-disease associations

List of associated variants

Optic Atrophy, Hereditary, Leber, C0917796

Source: UNIPROT ×

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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	Num. diseases
rs1599988	COX1 ; ND1 ; ND2	1.000	0.160	MT	4216	missense variant	T/C	snv	1
rs199476115	COX1 ; ND2	1.000	0.160	MT	5244	missense variant	G/A	snv	1
rs28357980	COX1 ; ND2	1.000	0.160	MT	4917	missense variant	A/G	snv	1
rs267606895	CYTB ; ND5	0.882	0.240	MT	13045	missense variant	A/C	snv	1
rs267606898	CYTB ; ND5	0.851	0.240	MT	13042	missense variant	G/A	snv	1
rs28359178	CYTB ; ND5 ; ND6	0.882	0.280	MT	13708	missense variant	G/A	snv	1
rs397515506	CYTB ; ND5 ; ND6	1.000	0.160	MT	14568	missense variant	C/T	snv	1
rs200336777	CYTB ; ND6	1.000	0.160	MT	15812	missense variant	G/A	snv	1
rs387906425	CYTB ; ND6 ; ND5	1.000	0.160	MT	13730	missense variant	G/A	snv	1
rs199476118	ND1 ; ND2	0.925	0.160	MT	3460	missense variant	G/A	snv	1
rs41460449	ND1 ; ND2	1.000	0.160	MT	3394	missense variant	T/C	snv	1
rs199476119	ND2 ; ND1 ; COX1	1.000	0.160	MT	4160	missense variant	T/C	snv	1
rs267606611	ND3 ; ND4 ; ND4L ; COX3 ; ATP6	1.000	0.160	MT	9438	missense variant	G/A	snv	1
rs200613617	ND3 ; ND4L ; COX3 ; ND4	1.000	0.160	MT	9804	missense variant	G/A	snv	1
rs193302933	ND4 ; ND3 ; ND5 ; ND4L	1.000	0.160	MT	10664	synonymous variant	C/T	snv	1
rs199476112	ND4 ; ND5	0.925	0.160	MT	11778	missense variant	G/A	snv	1
rs199476134	ND4L ; ND4 ; ATP6 ; COX3 ; ND3	1.000	0.160	MT	9101	missense variant	T/C	snv	1
rs267606899	ND5 ; CYTB	1.000	0.160	MT	12848	missense variant	C/T	snv	1
rs199476105	ND5 ; CYTB ; ND6	0.851	0.200	MT	14459	missense variant	G/A	snv	1
rs869025186	ND5 ; CYTB ; ND6	1.000	0.160	MT	14498	missense variant	T/C	snv	1
rs199476106	ND5 ; ND6 ; CYTB	1.000	0.160	MT	14495	missense variant	A/G	snv	1
rs41518645	ND6 ; CYTB	0.925	0.200	MT	15257	missense variant	G/A	snv	1
rs199476104	ND6 ; CYTB ; ND5	0.925	0.160	MT	14484	missense variant	T/C	snv	1
rs199476108	ND6 ; CYTB ; ND5	1.000	0.160	MT	14482	missense variant	C/A;G	snv	1
rs387906424	ND6 ; ND5 ; CYTB	0.925	0.200	MT	14596	missense variant	A/T	snv	1