DisGeNET - a database of gene-disease associations

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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
rs778768583	CAPN3	0.851	0.120	15	42410958	missense variant	G/C	snv	8.0E-06		10
rs886042108	CAPN3	0.851	0.120	15	42409930	splice acceptor variant	G/C;T	snv			10