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	Num. diseases
rs587777893	MTOR	0.658	0.240	1	11128107	missense variant	G/A;T	snv	67
rs1057519389	EBF3	0.695	0.400	10	129957324	missense variant	C/A;G;T	snv	46
rs1554496813	KMT2C	0.827	0.160	7	152177839	frameshift variant	-/G	delins	8