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
rs104893954	FOXC1	0.925	0.080	6	1610706	missense variant	C/G	snv			2
rs1554100953	FOXC1	0.925	0.080	6	1610792	frameshift variant	G/-	delins			2