DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Malignant 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
rs1801018	BCL2	0.851	0.240	18	63318646	synonymous variant	T/C	snv	0.37	0.32	6
rs780634396	BCL2	0.882	0.120	18	63318618	missense variant	T/C	snv	4.0E-06		5
rs1564483	BCL2	1.000	0.080	18	63127421	3 prime UTR variant	C/T	snv		0.22	4