DisGeNET - a database of gene-disease associations

List of associated variants

Ventricular arrhythmia, C0085612

Source: CLINVAR ×

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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
rs766265889	TTN-AS1 ; TTN	0.827	0.240	2	178535508	stop gained	G/A;T	snv	8.0E-06; 4.0E-06		11
rs45546039	SCN5A	0.732	0.120	3	38613781	missense variant	C/A;T	snv	4.1E-06		10
rs104894580	KCNJ2	0.790	0.240	17	70175238	missense variant	C/A;T	snv	4.0E-06		3
rs56984562	LMNA	0.827	0.200	1	156137666	missense variant	C/A;G;T	snv			3
rs137854600	SCN5A	0.807	0.120	3	38551504	missense variant	C/A;T	snv			3
rs7626962	SCN5A	0.790	0.080	3	38579416	missense variant	G/A;T	snv	1.6E-05; 5.9E-03		3
rs104894503	TPM1	0.776	0.160	15	63060899	missense variant	G/A	snv	1.6E-05	2.8E-05	3
rs1554108172	DSP	0.925	0.080	6	7579983	stop gained	G/T	snv			2
rs120074187	KCNQ1	0.882	0.120	11	2572963	missense variant	G/A	snv	4.8E-05	2.1E-05	2
rs59301204	LMNA	0.925	0.080	1	156135956	missense variant	G/A;C	snv	1.2E-05		2
rs121918600	RYR2	0.882	0.080	1	237791441	missense variant	C/T	snv			2
rs121918604	RYR2	0.882	0.080	1	237798037	missense variant	G/A;T	snv	1.7E-05		2
rs794728708	RYR2	0.827	0.120	1	237377386	missense variant	G/A;T	snv			2
rs104894584	KCNJ2	0.851	0.120	17	70175553	missense variant	G/A	snv			1
rs120074192	KCNQ1	0.763	0.120	11	2527959	missense variant	A/G	snv			1