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
rs6013	F5			1	169518583	intron variant	G/A;T	snv	2.6E-04; 6.4E-02		1
rs6028	F5			1	169582444	synonymous variant	T/C	snv	0.29	0.23	1