DisGeNET - a database of gene-disease associations

List of shared variants

Long QT Syndrome, C0023976

Disease: Brugada Syndrome (disorder)

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
rs41261344	SCN5A	0.763	0.120	3	38575385	missense variant	C/T	snv	5.4E-03	2.2E-03	11
rs137854601	SCN5A	0.776	0.120	3	38551022	stop gained	C/A;T	snv	4.0E-06		10
rs137854600	SCN5A	0.807	0.120	3	38551504	missense variant	C/A;T	snv			6
rs199473282	SCN5A	0.827	0.120	3	38551513	missense variant	G/A;T	snv	4.0E-06		5
rs137854615	SCN5A	0.851	0.120	3	38550989	missense variant	A/G	snv			4
rs199473124	SCN5A	0.851	0.120	3	38603902	missense variant	A/T	snv	8.0E-06	7.0E-06	4
rs72549410	SCN5A	0.851	0.120	3	38606058	missense variant	C/T	snv			4
rs79299226	SCN5A	0.851	0.120	3	38550898	missense variant	A/G	snv			4
rs137854614	SCN5A	0.882	0.120	3	38550988	missense variant	T/C	snv			3
rs199473096	SCN5A	0.882	0.120	3	38606751	missense variant	G/A	snv			3
rs199473311	SCN5A	0.882	0.120	3	38551070	missense variant	T/C	snv		7.0E-06	3
rs199473603	SCN5A	0.882	0.120	3	38562467	missense variant	G/A	snv	1.8E-04	2.1E-04	3
rs28937316	SCN5A	0.882	0.120	3	38551441	missense variant	C/A;T	snv	4.0E-06		3
rs749697698	SCN5A	0.882	0.120	3	38551520	inframe deletion	AAG/-	delins	2.0E-05		3
rs199473315	SCN5A	0.925	0.120	3	38551015	missense variant	A/G;T	snv			2