DisGeNET - a database of gene-disease associations

Source: ALL

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
rs1805124	SCN5A	0.742	0.280	3	38603929	missense variant	T/C	snv	0.22	0.25	16
rs137854618	SCN5A	0.742	0.120	3	38566426	missense variant	C/A;T	snv	8.0E-06		15
rs45546039	SCN5A	0.732	0.120	3	38613781	missense variant	C/A;T	snv	4.1E-06		15
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
rs7626962	SCN5A	0.790	0.080	3	38579416	missense variant	G/A;T	snv	1.6E-05; 5.9E-03		10
rs199473097	SCN5A	0.763	0.120	3	38606710	missense variant	G/A	snv	8.0E-06	7.0E-06	9
rs757532106	SCN5A	0.763	0.120	3	38550500	stop gained	G/A	snv	4.5E-05	4.9E-05	9
rs199473119	SCN5A	0.790	0.120	3	38604035	missense variant	G/A;T	snv	8.4E-06; 4.2E-06		7
rs199473605	SCN5A	0.851	0.120	3	38560374	missense variant	C/G;T	snv	4.8E-05; 4.0E-06		7
rs11708996	SCN5A	0.925	0.120	3	38592432	intron variant	G/C	snv		0.11	6
rs137854600	SCN5A	0.807	0.120	3	38551504	missense variant	C/A;T	snv			6
rs199473225	SCN5A	0.851	0.120	3	38560397	missense variant	G/A;C	snv			6
rs12720452	SCN5A	0.882	0.120	3	38603758	missense variant	C/T	snv	2.9E-04	2.9E-04	5
rs137854602	SCN5A	0.925	0.080	3	38555664	missense variant	G/A	snv	5.6E-05	1.4E-05	5
rs137854607	SCN5A	0.882	0.120	3	38554309	missense variant	C/G;T	snv			5
rs199473062	SCN5A	0.827	0.120	3	38622401	stop gained	C/A;G;T	snv	4.1E-06		5
rs199473072	SCN5A	0.827	0.160	3	38613773	missense variant	G/A	snv	1.2E-05	8.4E-05	5
rs199473282	SCN5A	0.827	0.120	3	38551513	missense variant	G/A;T	snv	4.0E-06		5
rs41310765	SCN5A	0.882	0.120	3	38575424	missense variant	G/A	snv	1.4E-04	7.7E-05	5
rs137854606	SCN5A	0.882	0.120	3	38604062	missense variant	C/A	snv			4
rs137854612	SCN5A	0.851	0.120	3	38560170	missense variant	C/T	snv			4
rs137854615	SCN5A	0.851	0.120	3	38550989	missense variant	A/G	snv			4
rs185638763	SCN5A	0.882	0.120	3	38599001	missense variant	G/A;T	snv	1.2E-05		4
rs199473124	SCN5A	0.851	0.120	3	38603902	missense variant	A/T	snv	8.0E-06	7.0E-06	4