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
rs1060499769	SYNE1			6	152354858	missense variant	C/T	snv	1.2E-05		1
rs150304757	SYNE1			6	152244534	splice region variant	C/T	snv	3.9E-03	8.8E-04	1