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
rs553749201	CHRNE ; GP1BA			17	4933900	synonymous variant	C/A	snv			3
rs2243086	CHRNE ; GP1BA	1.000	0.040	17	4930914	intron variant	G/T	snv		0.20	1
rs6065	CHRNE ; GP1BA	0.851	0.280	17	4933086	missense variant	C/T	snv	9.8E-02	0.13	1