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
rs2498801	LOC102723342 ; AKT1	0.790	0.120	14	104769221	upstream gene variant	T/C	snv		0.41	7
rs12934561	IL32	0.882	0.080	16	3068864	intron variant	T/C	snv		0.57	3