DisGeNET - a database of gene-disease associations

Source: CURATED

Variants associated to the Disease: Mitochondrial Diseases ×

Variants associated to the Gene: BCS1L ×

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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
rs28937590	BCS1L ; ZNF142	0.807	0.360	2	218661219	missense variant	A/G	snv	4.7E-04	4.1E-04	4
rs121908572	ZNF142 ; BCS1L	0.882	0.280	2	218661283	missense variant	C/T	snv			3