DisGeNET - a database of gene-disease associations

List of shared variants

MELAS Syndrome, C0162671

Disease: Leigh Disease

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
rs199476133	ND3 ; COX3 ; ND4L ; ND4 ; ATP8 ; ATP6	0.742	0.320	MT	8993	missense variant	T/C;G	snv			18
rs199474657	TRNL1 ; ND1 ; ND2	0.752	0.360	MT	3243	non coding transcript exon variant	A/G	snv			15
rs118192098	TRNK ; COX3 ; COX2 ; ATP6 ; ATP8 ; ND3	0.851	0.200	MT	8344	non coding transcript exon variant	A/G	snv			5
rs118192100	ND3 ; TRNK ; ATP8 ; COX2 ; COX3 ; ATP6	0.882	0.200	MT	8363	non coding transcript exon variant	G/A	snv			4
rs267606897	CYTB ; ND5	0.882	0.200	MT	13513	missense variant	G/A	snv			4
rs199476123	ND2 ; ND1 ; COX1	0.882	0.200	MT	3946	missense variant	G/A	snv			3
rs199476144	ND1 ; TRNV	0.925	0.200	MT	1624	non coding transcript exon variant	C/T	snv			3
rs267606896	CYTB ; ND5	0.882	0.200	MT	13084	missense variant	A/T	snv			3
rs199476107	ND5 ; ND6 ; CYTB	0.925	0.200	MT	14453	missense variant	G/A	snv			2
rs587776433	ND1 ; ND2	0.925	0.200	MT	3481	missense variant	G/A	snv			2