DisGeNET - a database of gene-disease associations

List of associated variants

Absence of septum pellucidum, C0431371

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
rs1554603293	CHD7	0.752	0.320	8	60849154	missense variant	G/A	snv			17
rs758022116	RALGAPB	0.790	0.280	20	38535152	missense variant	G/T	snv	4.0E-06		13