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
rs2279115	BCL2	0.724	0.320	18	63319604	5 prime UTR variant	G/A;T	snv			18
rs533722308	BCL2	1.000	0.080	18	63293961	intron variant	TT/-;T;TTT;TTTT;TTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTTTT	delins			1