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
rs11886868	BCL11A	0.752	0.280	2	60493111	intron variant	C/T	snv	0.65	12
rs4895441	LOC105378010	0.925	0.080	6	135105435	upstream gene variant	A/G	snv	0.21	10
rs7482144	HBG2	0.882	0.280	11	5254939	3 prime UTR variant	G/A	snv		4