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
rs1130233	AKT1	0.742	0.480	14	104773557	synonymous variant	C/T	snv	0.30	0.23	13
rs2494752	AKT1	0.790	0.120	14	104797271	upstream gene variant	A/G	snv		0.85	10