DisGeNET - a database of gene-disease associations

List of associated variants

Timothy syndrome, C1832916

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
rs61752115	PEX13	0.807	0.320	2	61048535	missense variant	T/C	snv	4.0E-06		7
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
rs374528680	CACNA1C-AS1 ; CACNA1C	0.851	0.240	12	2686216	missense variant	G/A;C	snv	4.0E-06; 6.0E-05		5
rs80315385	CACNA1C	0.882	0.200	12	2504932	missense variant	G/A	snv			3
rs730880056	CACNA1C	1.000	0.200	12	2593261	missense variant	G/A;C	snv	1.2E-05		1
rs794727587	CACNA1C	1.000	0.200	12	2665600	missense variant	C/G	snv			1
rs797044881	CACNA1C	1.000	0.200	12	2608651	missense variant	T/C	snv			1