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
rs199473625	SCN5A	0.882	0.120	3	38551394	missense variant	T/C	snv	3.2E-05	7.0E-05	2
rs199473266	SCN5A	0.882	0.120	3	38555697	missense variant	G/C	snv	2.0E-05		2
rs36210423	SCN5A	0.882	0.120	3	38603887	missense variant	G/A;C;T	snv	2.1E-04; 4.9E-03		2
rs12720452	SCN5A	0.882	0.120	3	38603758	missense variant	C/T	snv	2.9E-04	2.9E-04	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
rs199473153	SCN5A	0.882	0.120	3	38597737	stop gained	C/A;T	snv	4.0E-06		2
rs137854606	SCN5A	0.882	0.120	3	38604062	missense variant	C/A	snv			2
rs199473207	SCN5A	0.882	0.120	3	38566555	missense variant	G/A	snv			2
rs28937316	SCN5A	0.882	0.120	3	38551441	missense variant	C/A;T	snv	4.0E-06		1
rs137854614	SCN5A	0.882	0.120	3	38550988	missense variant	T/C	snv			1
rs28937317	SCN5A	0.882	0.120	3	38560418	missense variant	T/C	snv			1
rs199473603	SCN5A	0.882	0.120	3	38562467	missense variant	G/A	snv	1.8E-04	2.1E-04	1
rs199473311	SCN5A	0.882	0.120	3	38551070	missense variant	T/C	snv		7.0E-06	1
rs199473317	SCN5A	0.882	0.120	3	38551003	missense variant	T/C	snv			1
rs137854607	SCN5A	0.882	0.120	3	38554309	missense variant	C/G;T	snv			1
rs137854604	SCN5A	0.882	0.120	3	38551243	missense variant	G/A	snv	1.6E-05	7.0E-06	1
rs199473229	SCN5A	0.882	0.120	3	38560361	missense variant	A/G	snv			1
rs199473565	SCN5A	0.882	0.120	3	38606743	missense variant	C/T	snv	4.0E-06	7.0E-06	1
rs199473096	SCN5A	0.882	0.120	3	38606751	missense variant	G/A	snv			1
rs199473561	SCN5A	0.882	0.120	3	38613769	missense variant	G/A	snv	9.1E-05	3.5E-05	1
rs199473320	SCN5A	0.882	0.120	3	38550878	missense variant	G/C	snv	6.0E-05	4.0E-04	1
rs185638763	SCN5A	0.882	0.120	3	38599001	missense variant	G/A;T	snv	1.2E-05		1
rs199473220	SCN5A	0.882	0.120	3	38562422	missense variant	C/A	snv	4.2E-05	2.8E-05	1
rs199473623	SCN5A	0.882	0.120	3	38551486	missense variant	C/T	snv	1.2E-05	7.0E-06	1
rs199473573	SCN5A	0.925	0.120	3	38604007	missense variant	A/C	snv	1.6E-05	7.0E-06	2