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
rs1163944538	TMEM94	0.641	0.560	17	75494905	frameshift variant	-/A	delins	4.0E-06	73
rs1352010373	TMEM94	0.641	0.560	17	75489265	splice acceptor variant	G/C	snv		73
rs1057518914	RPS6KA3	0.790	0.160	X	20193547	missense variant	G/C	snv		14