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
rs1555565774	EFTUD2	0.807	0.360	17	44862753	frameshift variant	G/-	delins		16
rs1057518914	RPS6KA3	0.790	0.160	X	20193547	missense variant	G/C	snv		14
rs431905509	SLC25A1	0.807	0.280	22	19176222	missense variant	G/A;C	snv	2.0E-05	8