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
rs12602950	CNP			17	41971811	non coding transcript exon variant	G/A;C;T	snv			1
rs2070106	CNP	0.925	0.160	17	41973846	synonymous variant	G/A	snv	0.31	0.25	4
rs1345128632	CNP	0.925	0.080	17	41968217	synonymous variant	G/A	snv		7.0E-06	2