DisGeNET - a database of gene-disease associations

List of associated variants

Long Qt Syndrome 2, C3150943

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	Num. diseases
rs199472859	KCNH2	1.000	0.120	7	150959722	missense variant	A/G	snv		1
rs199472898	KCNH2	1.000	0.120	7	150952703	missense variant	A/G	snv		1
rs199472927	KCNH2	1.000	0.120	7	150951691	missense variant	A/G	snv		1
rs199472980	KCNH2	1.000	0.120	7	150951081	missense variant	A/G	snv		1
rs199472981	KCNH2	1.000	0.120	7	150951033	missense variant	A/G	snv		1
rs199472994	KCNH2	1.000	0.120	7	150950257	missense variant	A/G	snv		1
rs199473026	KCNH2	1.000	0.120	7	150947334	missense variant	A/G	snv		1
rs199473417	KCNH2	1.000	0.120	7	150974816	missense variant	A/G	snv		1
rs199473520	KCNH2	1.000	0.120	7	150951688	missense variant	A/G	snv		1
rs199473526	KCNH2	1.000	0.120	7	150951504	missense variant	A/G	snv		1
rs199472924	KCNH2	0.925	0.120	7	150951702	missense variant	A/G;T	snv		2
rs199472951	KCNH2	0.925	0.120	7	150951519	missense variant	A/G;T	snv		2
rs1563152963	KCNH2	1.000	0.120	7	150950166	splice donor variant	A/T	snv		1
rs199472858	KCNH2	1.000	0.120	7	150959727	missense variant	A/T	snv		1
rs199472920	KCNH2	1.000	0.120	7	150951717	missense variant	A/T	snv		1
rs794728438	KCNH2	1.000	0.120	7	150952458	inframe deletion	AGGGGATGGCGGCCACCATGTCGATGA/-	delins		1
rs1554425498	KCNH2	1.000	0.120	7	150951028	frameshift variant	C/-	delins		1
rs794728496	KCNH2	1.000	0.120	7	150958297	frameshift variant	C/-	delins		1
rs794728455	KCNH2	0.882	0.120	7	150947796	frameshift variant	C/-;CC	delins	2.4E-05	3
rs730880116	KCNH2	0.925	0.120	7	150958290	stop gained	C/A	snv		2
rs199472827	KCNH2	1.000	0.120	7	150974941	missense variant	C/A	snv		1
rs199472883	KCNH2	1.000	0.120	7	150958073	missense variant	C/A	snv		1
rs199472903	KCNH2	1.000	0.120	7	150952604	missense variant	C/A	snv		1
rs199472913	KCNH2	1.000	0.120	7	150951818	missense variant	C/A	snv		1
rs199472943	KCNH2	1.000	0.120	7	150951559	missense variant	C/A	snv		1