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
rs738409	PNPLA3	0.557	0.720	22	43928847	missense variant	C/G	snv	0.28	0.22	11
rs738408	PNPLA3	0.925	0.120	22	43928850	synonymous variant	C/T	snv	0.28	0.22	9
rs3747207	PNPLA3			22	43928975	intron variant	G/A	snv		0.22	7