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
rs6983267	PCAT1 ; CCAT2 ; CASC8 ; POU5F1B	0.578	0.440	8	127401060	non coding transcript exon variant	G/T	snv	0.37	62
rs7013278	POU5F1B ; CCAT2 ; CASC8 ; PCAT1	0.776	0.080	8	127402647	intron variant	T/C	snv	0.59	10
rs12682374	POU5F1B ; PCAT1 ; CCAT2 ; CASC8	0.790	0.080	8	127398703	intron variant	C/A;G;T	snv		9