DisGeNET - a database of gene-disease associations

List of shared variants

Long QT Syndrome, C0023976

Disease: Jervell-Lange Nielsen Syndrome

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
rs17215500	KCNQ1	0.807	0.240	11	2768881	stop gained	C/G;T	snv	1.0E-04		7
rs74315445	KCNE1	0.807	0.120	21	34449409	missense variant	C/T	snv	6.8E-05	5.3E-05	6
rs1167115018	HFE ; LOC108783645	0.827	0.160	6	26092760	missense variant	A/G	snv	8.0E-06	7.0E-06	5
rs151344631	KCNQ1	0.827	0.200	11	2571333	missense variant	G/A	snv	8.0E-06	3.5E-05	5
rs199472755	KCNQ1	0.851	0.120	11	2583478	missense variant	C/A;G;T	snv	4.0E-06		4
rs199472815	KCNQ1	0.851	0.120	11	2778024	missense variant	G/A;C	snv	2.0E-05		4
rs397508118	KCNQ1	0.851	0.120	11	2570720	frameshift variant	GCGCT/-	delins		1.4E-05	4
rs74315446	KCNE1	0.851	0.120	21	34449414	missense variant	G/A;C	snv	1.6E-05		4
rs199472702	KCNQ1	0.882	0.120	11	2570754	missense variant	G/A;C	snv	8.1E-06		3
rs397508120	KCNQ1	0.882	0.120	11	2570734	frameshift variant	G/-	delins			3