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 GENOME	Num. diseases
rs12624433	SLC12A5	1.000	0.040	20	46052214	intron variant	G/A	snv	0.20	2
rs12968428	DCC	1.000	0.040	18	53223855	intron variant	A/G	snv	0.33	2
rs6715321		1.000	0.040	2	99492539	upstream gene variant	C/A;T	snv	0.41	2