DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: LONG QT SYNDROME 3 ×

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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
rs45546039	SCN5A	0.732	0.120	3	38613781	missense variant	C/A;T	snv	4.1E-06		2
rs137854618	SCN5A	0.742	0.120	3	38566426	missense variant	C/A;T	snv	8.0E-06		4
rs199473097	SCN5A	0.763	0.120	3	38606710	missense variant	G/A	snv	8.0E-06	7.0E-06	2
rs41261344	SCN5A	0.763	0.120	3	38575385	missense variant	C/T	snv	5.4E-03	2.2E-03	2
rs137854601	SCN5A	0.776	0.120	3	38551022	stop gained	C/A;T	snv	4.0E-06		2
rs137854600	SCN5A	0.807	0.120	3	38551504	missense variant	C/A;T	snv			2
rs199473072	SCN5A	0.827	0.160	3	38613773	missense variant	G/A	snv	1.2E-05	8.4E-05	3
rs199473282	SCN5A	0.827	0.120	3	38551513	missense variant	G/A;T	snv	4.0E-06		3
rs41315493	SCN5A	0.851	0.120	3	38550521	missense variant	C/A;T	snv	6.6E-03; 9.7E-05		3
rs199473225	SCN5A	0.851	0.120	3	38560397	missense variant	G/A;C	snv			2
rs137854615	SCN5A	0.851	0.120	3	38550989	missense variant	A/G	snv			1
rs72549410	SCN5A	0.851	0.120	3	38606058	missense variant	C/T	snv			1
rs79299226	SCN5A	0.851	0.120	3	38550898	missense variant	A/G	snv			1
rs137854617	SCN5A	0.882	0.120	3	38581002	stop gained	C/A;T	snv	1.1E-04	1.5E-04	3
rs12720452	SCN5A	0.882	0.120	3	38603758	missense variant	C/T	snv	2.9E-04	2.9E-04	2
rs137854609	SCN5A	0.882	0.120	3	38581170	missense variant	C/A;T	snv	7.9E-05		2
rs199473055	SCN5A	0.882	0.120	3	38630393	missense variant	G/A;C	snv	4.0E-06		2
rs199473133	SCN5A	0.882	0.120	3	38603747	missense variant	G/A	snv	3.1E-05	6.3E-05	2
rs199473266	SCN5A	0.882	0.120	3	38555697	missense variant	G/C	snv	2.0E-05		2
rs199473604	SCN5A	0.882	0.120	3	38560394	missense variant	G/T	snv			2
rs199473625	SCN5A	0.882	0.120	3	38551394	missense variant	T/C	snv	3.2E-05	7.0E-05	2
rs36210423	SCN5A	0.882	0.120	3	38603887	missense variant	G/A;C;T	snv	2.1E-04; 4.9E-03		2
rs41311117	SCN5A	0.882	0.120	3	38550362	missense variant	A/C;G;T	snv	3.6E-05; 2.0E-03; 1.0E-05		2
rs137854614	SCN5A	0.882	0.120	3	38550988	missense variant	T/C	snv			1
rs185638763	SCN5A	0.882	0.120	3	38599001	missense variant	G/A;T	snv	1.2E-05		1