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	AF GENOME	Num. diseases
rs1175550	SMIM1			1	3774964	intron variant	A/G	snv		0.31	5
rs566629828	SMIM1			1	3775434	frameshift variant	AGCCTAGGGGCTGTGTC/-	delins		9.2E-03	2