DisGeNET - a database of gene-disease associations

List of associated variants

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27, C4748826

Source: ALL

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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
rs201431517	MTFMT	0.827	0.200	15	65021533	missense variant	G/A	snv	3.5E-04	5.7E-04	17
rs200286768	MTFMT	0.925		15	65003238	stop gained	G/A;T	snv	9.3E-05; 4.0E-06		2