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
rs1057518780	GJB1	0.882	0.200	X	71224209	missense variant	T/G	snv			8
rs1553551006	DYSF	1.000		2	71564172	frameshift variant	T/-	del			4