DisGeNET - a database of gene-disease associations

List of shared variants

Andersen Syndrome, C1563715

Disease: Ventricular tachycardia, polymorphic

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
rs1805123	KCNH2	0.724	0.280	7	150948446	missense variant	T/A;C;G	snv	1.3E-05; 0.18; 8.4E-06		18
rs767910122	KCNH2	0.724	0.280	7	150948446	frameshift variant	-/GTCCG	ins		4.4E-05	17
rs794728448	KCNH2	0.724	0.280	7	150948445	frameshift variant	CT/G	delins			17
rs1805124	SCN5A	0.742	0.280	3	38603929	missense variant	T/C	snv	0.22	0.25	16
rs104894580	KCNJ2	0.790	0.240	17	70175238	missense variant	C/A;T	snv	4.0E-06		7