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
rs1327062642	TULP1	0.827	0.200	6	35509903	frameshift variant	-/G	delins	4.0E-06		11
rs752963712	PDE6C	0.882	0.160	10	93640953	stop gained	G/A;T	snv	8.0E-06; 4.0E-06		3