DisGeNET - a database of gene-disease associations

Source: INFERRED ×

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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
rs147105770	ERCC4	0.776	0.280	16	13935697	missense variant	C/G;T	snv	1.2E-05; 6.4E-05		5
rs1555468482	ERCC4	0.882	0.240	16	13935663	frameshift variant	C/-	del			3