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
rs766814208	ENTPD1-AS1 ; ENTPD1	0.851	0.120	10	95823259	synonymous variant	C/T	snv	1.6E-05	2.8E-05	5
rs1283391088	HBA1	0.882	0.120	16	176755	synonymous variant	C/T	snv		1.4E-05	4