DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Long QT Syndrome ×

Variants associated to the Gene: AKAP9 ×

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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
rs1563145763	AKAP9	1.000	0.120	7	92099838	stop gained	G/A	snv			1
rs796052199	AKAP9	1.000	0.120	7	92002212	missense variant	T/A	snv			1
rs796052200	AKAP9	1.000	0.120	7	92045186	missense variant	T/A	snv	4.0E-06		1