DisGeNET - a database of gene-disease associations

Source: CURATED

Variants associated to the Disease: Optic Atrophy, Hereditary, Leber ×

Variants associated to the Gene: ND6 ×

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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
rs199476105	ND5 ; CYTB ; ND6	0.851	0.200	MT	14459	missense variant	G/A	snv			4
rs199476104	ND6 ; CYTB ; ND5	0.925	0.160	MT	14484	missense variant	T/C	snv			2
rs387906424	ND6 ; ND5 ; CYTB	0.925	0.200	MT	14596	missense variant	A/T	snv			2
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
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
rs199476108	ND6 ; CYTB ; ND5	1.000	0.160	MT	14482	missense variant	C/A;G	snv			1