DisGeNET - a database of gene-disease associations

List of associated variants

LONG QT SYNDROME 15, C4015695

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
rs398124647	CALM2	0.807	0.120	2	47161851	missense variant	T/A;C	snv			6
rs730882252	CALM1	0.882	0.120	14	90404482	missense variant	A/G	snv			3
rs398124650	CALM2	0.882	0.120	2	47161744	missense variant	C/G;T	snv			3
rs398124648	CALM2	0.925	0.080	2	47161748	missense variant	A/C	snv			2
rs398124649	CALM2	0.925	0.080	2	47161737	missense variant	T/G	snv			2
rs1553431702	CALM2	1.000		2	47161730	missense variant	G/C	snv			1
rs730882254	CALM2	1.000		2	47161857	missense variant	T/A	snv			1