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	Num. diseases
rs28934908	MECP2	0.732	0.280	X	154031409	missense variant	G/A;T	snv	5.5E-06	23
rs1555454508	SPG11	0.790	0.240	15	44615487	stop gained	GTA/ATC	mnv		18
rs312262717	SPG11	0.790	0.240	15	44659104	frameshift variant	A/-;AA	delins		18