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
rs1048709	CFB ; CYP21A2	0.776	0.320	6	31947158	synonymous variant	A/G	snv	0.82	0.85	8
rs10863888	TRAF5	0.851	0.280	1	211329427	intron variant	A/C;G;T	snv			4
rs12569232	LOC107985258	0.882	0.280	1	211379722	intron variant	G/C;T	snv			4