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
rs867410737	ATP5F1D	0.708	0.440	19	1242559	missense variant	C/T	snv	6.7E-06	45
rs1064795559	MORC2	0.752	0.320	22	30946373	missense variant	G/A	snv		29
rs1057518834	DMD			X	32849737	frameshift variant	C/-	delins		9