DisGeNET - a database of gene-disease associations

List of associated variants

Ventricular arrhythmia, C0085612

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
rs1042714	ADRB2	0.597	0.640	5	148826910	stop gained	G/C;T	snv	0.68		54
rs104894503	TPM1	0.776	0.160	15	63060899	missense variant	G/A	snv	1.6E-05	2.8E-05	9
rs104894580	KCNJ2	0.790	0.240	17	70175238	missense variant	C/A;T	snv	4.0E-06		7
rs104894584	KCNJ2	0.851	0.120	17	70175553	missense variant	G/A	snv			5
rs1049194905	SCN5A	0.925	0.080	3	38604063	synonymous variant	A/G	snv			2
rs120074187	KCNQ1	0.882	0.120	11	2572963	missense variant	G/A	snv	4.8E-05	2.1E-05	3
rs120074192	KCNQ1	0.763	0.120	11	2527959	missense variant	A/G	snv			10
rs121918600	RYR2	0.882	0.080	1	237791441	missense variant	C/T	snv			5
rs121918604	RYR2	0.882	0.080	1	237798037	missense variant	G/A;T	snv	1.7E-05		3
rs1237080661	SCN5A	0.925	0.080	3	38604780	stop gained	A/G;T	snv		2.8E-05	2
rs1266360671	RYR2	0.925	0.080	1	237270518	missense variant	T/C	snv	4.7E-06		3
rs1355262401	GJA1	1.000	0.080	6	121447691	missense variant	T/G	snv		7.0E-06	2
rs137854600	SCN5A	0.807	0.120	3	38551504	missense variant	C/A;T	snv			6
rs1554108172	DSP	0.925	0.080	6	7579983	stop gained	G/T	snv			2
rs1801253	ADRB1	0.683	0.440	10	114045297	missense variant	G/C	snv	0.74	0.69	34
rs1805120	KCNH2	0.882	0.080	7	150952443	synonymous variant	G/A	snv	0.30	0.26	3
rs1805127	KCNE1	0.732	0.240	21	34449523	missense variant	T/C	snv	0.64	2.0E-04	17
rs184934308	SCN5A	0.925	0.080	3	38575342	synonymous variant	G/A	snv	4.1E-04	9.1E-05	2
rs1860561	ATP2A2	0.851	0.080	12	110345436	intron variant	G/A	snv		0.19	5
rs192749597	CACNA1C ; CACNA1C-AS1	0.882	0.080	12	2679712	missense variant	C/T	snv	9.2E-04	3.5E-03	3
rs199473605	SCN5A	0.851	0.120	3	38560374	missense variant	C/G;T	snv	4.8E-05; 4.0E-06		7
rs201698592	KCNQ1 ; KCNQ1-AS1	0.925	0.080	11	2847916	synonymous variant	C/T	snv	1.7E-04	2.8E-05	2
rs3745297	HRC	0.790	0.120	19	49154952	missense variant	A/C	snv	0.41	0.38	10
rs3766871	RYR2	0.790	0.240	1	237614784	missense variant	G/A;T	snv	4.0E-02		9
rs45546039	SCN5A	0.732	0.120	3	38613781	missense variant	C/A;T	snv	4.1E-06		15