DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Gene: SCN5A ×

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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
rs137854618	SCN5A	0.742	0.120	3	38566426	missense variant	C/A;T	snv	8.0E-06		4
rs199473282	SCN5A	0.827	0.120	3	38551513	missense variant	G/A;T	snv	4.0E-06		3
rs199473072	SCN5A	0.827	0.160	3	38613773	missense variant	G/A	snv	1.2E-05	8.4E-05	3
rs41315493	SCN5A	0.851	0.120	3	38550521	missense variant	C/A;T	snv	6.6E-03; 9.7E-05		3
rs137854617	SCN5A	0.882	0.120	3	38581002	stop gained	C/A;T	snv	1.1E-04	1.5E-04	3
rs199473604	SCN5A	0.882	0.120	3	38560394	missense variant	G/T	snv			2
rs199473573	SCN5A	0.925	0.120	3	38604007	missense variant	A/C	snv	1.6E-05	7.0E-06	2
rs137854612	SCN5A	0.851	0.120	3	38560170	missense variant	C/T	snv			2
rs45620037	SCN5A	0.882	0.120	3	38613787	missense variant	G/A	snv	6.6E-04	6.6E-04	2
rs137854611	SCN5A	0.882	0.120	3	38597787	missense variant	G/A;C;T	snv	4.0E-06		2
rs137854600	SCN5A	0.807	0.120	3	38551504	missense variant	C/A;T	snv			2
rs199473070	SCN5A	0.925	0.120	3	38613811	missense variant	A/G;T	snv			2
rs199473204	SCN5A	0.925	0.120	3	38566576	stop gained	C/A;T	snv	4.0E-06		2
rs41311087	SCN5A	0.925	0.120	3	38633255	missense variant	C/T	snv	7.2E-05	4.2E-05	2
rs199473246	SCN5A	0.925	0.120	3	38557234	missense variant	C/G;T	snv	2.0E-05		2
rs199473181	SCN5A	0.925	0.120	3	38581265	missense variant	C/A;T	snv	4.1E-06		2
rs199473225	SCN5A	0.851	0.120	3	38560397	missense variant	G/A;C	snv			2
rs199473157	SCN5A	0.925	0.120	3	38587522	missense variant	C/T	snv	2.0E-05	1.4E-05	2
rs137854601	SCN5A	0.776	0.120	3	38551022	stop gained	C/A;T	snv	4.0E-06		2
rs199473287	SCN5A	0.925	0.120	3	38551442	missense variant	G/A	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
rs45546039	SCN5A	0.732	0.120	3	38613781	missense variant	C/A;T	snv	4.1E-06		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
rs199473076	SCN5A	0.925	0.120	3	38609950	missense variant	C/T	snv	8.0E-06	2.8E-05	2