DisGeNET - a database of gene-disease associations

Source: INFERRED ×

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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
rs1057518731	SMARCD2	0.807	0.280	17	63833908	splice donor variant	C/T	snv			7
rs1057518733	SMARCD2	0.807	0.280	17	63837439	splice donor variant	A/G	snv			7