DisGeNET - a database of gene-disease associations

Source: ALL

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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
rs113993993	SBDS	0.851	0.040	7	66994210	splice donor variant	A/C;G	snv	4.0E-06; 3.9E-03		9
rs113993992	SBDS	0.882	0.040	7	66994211	splice donor variant	C/G	snv	4.0E-06	2.1E-05	3