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
rs11979158	EGFR	0.882	0.040	7	55091656	intron variant	A/G;T	snv	0.20	4
rs59060240	EGFR	0.882	0.040	7	55080369	intron variant	AA/-;A;AAA;AAAA;AAAAAAAAAAA	delins		4
rs723527	EGFR	0.882	0.040	7	55067179	intron variant	A/G	snv	0.53	4