DisGeNET - a database of gene-disease associations

List of associated variants

Brugada Syndrome (disorder), C1142166

Source: ALL

Results per page

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
rs6795970	SCN10A	0.807	0.200	3	38725184	missense variant	A/G	snv	0.65	0.70	13
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
rs3766871	RYR2	0.790	0.240	1	237614784	missense variant	G/A;T	snv	4.0E-02		9
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
rs10494366	LOC105371475 ; NOS1AP	0.851	0.200	1	162115895	intron variant	G/T	snv		0.54	7
rs199473605	SCN5A	0.851	0.120	3	38560374	missense variant	C/G;T	snv	4.8E-05; 4.0E-06		7
rs12567209		0.807	0.080	1	162066689	upstream gene variant	G/A	snv		8.6E-02	6
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
rs1064794243	SCN4A	0.851	0.200	17	63941169	missense variant	A/T	snv			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
rs755660650	SLCO6A1	0.827	0.120	5	102498596	missense variant	G/C	snv	4.0E-06		5
rs72554071	LOC105369689 ; KCNJ8	0.882	0.280	12	21765733	missense variant	G/A;C	snv	1.8E-03; 4.0E-06		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