DisGeNET - a database of gene-disease associations

List of associated variants

Long QT Syndrome, C0023976

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
rs1805127	KCNE1	0.732	0.240	21	34449523	missense variant	T/C	snv	0.64	2.0E-04	17
rs1805128	KCNE1	0.776	0.160	21	34449382	missense variant	C/T	snv	9.4E-03		10
rs74315445	KCNE1	0.807	0.120	21	34449409	missense variant	C/T	snv	6.8E-05	5.3E-05	6
rs74315446	KCNE1	0.851	0.120	21	34449414	missense variant	G/A;C	snv	1.6E-05		4
rs74315447	KCNE2 ; LOC105372791	0.925	0.120	21	34370639	missense variant	T/C	snv	2.6E-04	2.3E-04	3
rs199473647	KCNE1	0.925	0.120	21	34449256	missense variant	G/T	snv			2
rs1131691762	KCNE1	1.000	0.120	21	34449622	frameshift variant	-/A	delins	4.0E-06		1
rs1555843953	KCNE1	1.000	0.120	21	34449430	frameshift variant	TGGA/-	del			1
rs199473354	KCNE1	1.000	0.120	21	34449481	missense variant	C/T	snv			1
rs121434500	SNTA1	0.851	0.120	20	33410203	missense variant	G/A	snv	2.0E-05	1.4E-05	5
rs139467962	SNTA1	1.000	0.120	20	33412702	missense variant	G/A	snv	1.6E-05	4.9E-05	2
rs267607277	CALM1	0.807	0.120	14	90404386	missense variant	A/G	snv			6
rs730882252	CALM1	0.882	0.120	14	90404482	missense variant	A/G	snv			3
rs199744595	CALM1	0.925	0.120	14	90404693	missense variant	C/G;T	snv	2.4E-05		2
rs1085307479	CALM1	1.000	0.120	14	90404691	missense variant	T/C	snv			1
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
rs1343191564	CACNA1C-AS1 ; CACNA1C	1.000	0.120	12	2688616	missense variant	G/A	snv			1
rs377564636	CACNA1C-AS1 ; CACNA1C	1.000	0.120	12	2679529	missense variant	G/A	snv	4.1E-06		1
rs749945590	CACNA1C ; CACNA1C-AS1	1.000	0.120	12	2688601	missense variant	G/A	snv	1.2E-05	7.0E-06	1
rs750835733	CACNA1C	1.000	0.120	12	2593252	missense variant	C/G;T	snv	4.0E-06		1
rs786205748	CACNA1C	1.000	0.120	12	2566465	missense variant	C/T	snv			1
rs12720458	KCNQ1	0.716	0.240	11	2585264	missense variant	A/G	snv	4.0E-05	1.4E-05	20
rs120074192	KCNQ1	0.763	0.120	11	2527959	missense variant	A/G	snv			10