DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Neoplasms ×

Variants associated to the Gene: BCL2 ×

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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
rs1564483	BCL2	1.000	0.080	18	63127421	3 prime UTR variant	C/T	snv		0.22	4
rs747504890	BCL2	0.925	0.080	18	63318285	missense variant	C/T	snv	2.4E-05		3
rs4987852	BCL2	0.925	0.120	18	63126688	3 prime UTR variant	T/C	snv		5.1E-02	1