DisGeNET - a database of gene-disease associations

List of associated variants

Cardiac Arrhythmia, C0003811

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
rs199473225	SCN5A	0.851	0.120	3	38560397	missense variant	G/A;C	snv			6
rs1860561	ATP2A2	0.851	0.080	12	110345436	intron variant	G/A	snv		0.19	5
rs869025337	BVES	0.925	0.120	6	105124593	missense variant	G/A;C	snv	4.0E-06		5
rs374528680	CACNA1C-AS1 ; CACNA1C	0.851	0.240	12	2686216	missense variant	G/A;C	snv	4.0E-06; 6.0E-05		5
rs104894021	KCNH2	0.851	0.120	7	150951629	missense variant	G/C;T	snv			5
rs199472936	KCNH2	0.882	0.120	7	150951592	missense variant	C/A;T	snv			5
rs104894584	KCNJ2	0.851	0.120	17	70175553	missense variant	G/A	snv			5
rs137854602	SCN5A	0.925	0.080	3	38555664	missense variant	G/A	snv	5.6E-05	1.4E-05	5
rs72544141	ANK2	0.925	0.120	4	113348277	missense variant	A/G	snv	5.5E-04	8.3E-04	4
rs200484060	DSG2	1.000		18	31536370	missense variant	T/G	snv	5.6E-05	1.4E-05	4
rs121912507	KCNH2	0.882	0.120	7	150951511	missense variant	C/G;T	snv			4
rs773724817	KCNH2	0.925	0.160	7	150948861	stop gained	G/A	snv	4.0E-06		4
rs199472708	KCNQ1	0.882	0.080	11	2572015	missense variant	G/A	snv			4
rs199473401	KCNQ1	0.925	0.120	11	2570722	missense variant	T/C	snv			4
rs1800172	KCNQ1-AS1 ; KCNQ1	0.925	0.120	11	2847899	missense variant	G/A;T	snv	6.2E-03		4
rs58327533	LMNA	1.000	0.120	1	156114991	missense variant	C/G;T	snv			4
rs72554071	LOC105369689 ; KCNJ8	0.882	0.280	12	21765733	missense variant	G/A;C	snv	1.8E-03; 4.0E-06		4
rs199473648	LOC105372791 ; KCNE2	1.000	0.080	21	34370507	missense variant	C/T	snv	2.5E-04	2.4E-04	4
rs137854606	SCN5A	0.882	0.120	3	38604062	missense variant	C/A	snv			4
rs199473604	SCN5A	0.882	0.120	3	38560394	missense variant	G/T	snv			4
rs755373114	ANK2	0.925	0.080	4	113341742	missense variant	A/C	snv	7.2E-05		3
rs74315447	KCNE2 ; LOC105372791	0.925	0.120	21	34370639	missense variant	T/C	snv	2.6E-04	2.3E-04	3
rs1254179611	KCNH2	1.000	0.120	7	150958295	missense variant	G/A	snv			3
rs147750704	KCNJ2	0.925	0.080	17	70175316	missense variant	G/A	snv	1.6E-04	7.0E-05	3
rs120074195	KCNQ1	0.925	0.120	11	2572984	missense variant	G/A;C	snv			3