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	AF GENOME	Num. diseases
rs9333649	KCNH2	0.882	0.200	7	150951679	missense variant	C/A;G;T	snv			3
rs121912506	KCNH2	0.925	0.120	7	150948984	missense variant	C/G;T	snv			2
rs121912508	KCNH2	0.925	0.120	7	150951649	missense variant	G/A	snv			2
rs121912510	KCNH2	0.925	0.120	7	150948995	missense variant	G/A	snv	4.0E-06		2
rs121912511	KCNH2	0.925	0.120	7	150974825	missense variant	T/G	snv			2
rs121912514	KCNH2	0.925	0.120	7	150947729	missense variant	G/A;T	snv	6.0E-05; 6.0E-06		2
rs121912515	KCNH2	0.925	0.120	7	150974720	missense variant	G/A;C;T	snv			2
rs138776684	KCNH2	0.925	0.120	7	150957380	missense variant	G/A	snv	1.1E-03	6.3E-04	2
rs199472830	KCNH2	0.925	0.120	7	150974931	missense variant	G/T	snv			2
rs199472836	KCNH2	0.925	0.120	7	150974890	missense variant	T/C	snv			2
rs199472845	KCNH2	0.925	0.120	7	150974851	missense variant	C/A;T	snv			2
rs199472884	KCNH2	0.925	0.120	7	150958059	missense variant	C/A;G	snv			2
rs199472885	KCNH2	0.925	0.120	7	150957485	missense variant	G/A	snv	1.0E-04	8.4E-05	2
rs199472897	KCNH2	0.925	0.120	7	150952702	missense variant	T/C;G	snv			2
rs199472912	KCNH2	0.925	0.120	7	150952481	missense variant	C/G;T	snv			2
rs199472916	KCNH2	0.925	0.120	7	150951793	missense variant	G/A;T	snv			2
rs199472924	KCNH2	0.925	0.120	7	150951702	missense variant	A/G;T	snv			2
rs199472934	KCNH2	0.925	0.120	7	150951603	missense variant	T/C	snv			2
rs199472940	KCNH2	0.925	0.120	7	150951567	missense variant	T/C;G	snv			2
rs199472941	KCNH2	0.925	0.120	7	150951568	missense variant	C/A;G;T	snv			2
rs199472942	KCNH2	0.925	0.120	7	150951562	missense variant	A/C;G	snv			2
rs199472946	KCNH2	0.925	0.120	7	150951546	missense variant	T/C	snv			2
rs199472951	KCNH2	0.925	0.120	7	150951519	missense variant	A/G;T	snv			2
rs199472952	KCNH2	0.925	0.120	7	150951516	missense variant	C/A;G;T	snv			2
rs199472958	KCNH2	0.925	0.120	7	150951505	missense variant	C/G;T	snv	2.0E-05		2