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 GENOME	Num. diseases
rs1333049	CDKN2B-AS1	0.614	0.520	9	22125504	intron variant	G/C	snv	0.41	60
rs3217992	CDKN2B-AS1 ; CDKN2B	0.683	0.480	9	22003224	3 prime UTR variant	C/T	snv	0.32	22
rs445925	APOC1	0.882	0.080	19	44912383	non coding transcript exon variant	G/A;C	snv		10