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
rs2275913	IL17A	0.514	0.760	6	52186235	upstream gene variant	G/A	snv		0.28	105
rs2234693	ESR1	0.555	0.680	6	151842200	intron variant	T/C	snv		0.47	77