DisGeNET - a database of gene-disease associations

List of shared variants

Long QT Syndrome, C0023976

Disease: Timothy syndrome type 2

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
rs786205745	CACNA1C	0.807	0.320	12	2504538	missense variant	G/A;C	snv			6
rs79891110	CACNA1C	0.807	0.320	12	2504944	stop gained	G/A;T	snv			6
rs587782933	CACNA1C	0.827	0.200	12	2504526	missense variant	G/A	snv			5