DisGeNET - a database of gene-disease associations

List of associated variants

Cardiac Arrhythmia, C0003811

Source: ALL

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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
rs1805127	KCNE1	0.732	0.240	21	34449523	missense variant	T/C	snv	0.64	2.0E-04	17
rs1805128	KCNE1	0.776	0.160	21	34449382	missense variant	C/T	snv	9.4E-03		10
rs199473648	LOC105372791 ; KCNE2	1.000	0.080	21	34370507	missense variant	C/T	snv	2.5E-04	2.4E-04	4
rs74315447	KCNE2 ; LOC105372791	0.925	0.120	21	34370639	missense variant	T/C	snv	2.6E-04	2.3E-04	3
rs3745297	HRC	0.790	0.120	19	49154952	missense variant	A/C	snv	0.41	0.38	10
rs28933979	TTR	0.587	0.600	18	31592974	missense variant	G/A;C	snv	1.0E-04		70
rs200484060	DSG2	1.000		18	31536370	missense variant	T/G	snv	5.6E-05	1.4E-05	4
rs143624519	MAPT	0.724	0.240	17	45991484	missense variant	G/A;T	snv	1.5E-03; 1.2E-05		17
rs104894584	KCNJ2	0.851	0.120	17	70175553	missense variant	G/A	snv			5
rs147750704	KCNJ2	0.925	0.080	17	70175316	missense variant	G/A	snv	1.6E-04	7.0E-05	3
rs199473387	KCNJ2	1.000	0.120	17	70175952	missense variant	A/C;G	snv			2
rs7219669				17	70525720	intergenic variant	G/T	snv		0.45	1
rs104894503	TPM1	0.776	0.160	15	63060899	missense variant	G/A	snv	1.6E-05	2.8E-05	9
rs1316189390	HCN4 ; LOC105370890	1.000	0.040	15	73343594	missense variant	T/C	snv	4.0E-06		2
rs5443	CDCA3 ; GNB3	0.532	0.760	12	6845711	synonymous variant	C/T	snv	0.36	0.44	106
rs3825214	TBX5	0.851	0.080	12	114357638	intron variant	G/A	snv		0.77	8
rs150821281	PKP2	0.827	0.080	12	32878461	missense variant	G/A	snv	2.3E-03	2.5E-03	7
rs1860561	ATP2A2	0.851	0.080	12	110345436	intron variant	G/A	snv		0.19	5
rs374528680	CACNA1C-AS1 ; CACNA1C	0.851	0.240	12	2686216	missense variant	G/A;C	snv	4.0E-06; 6.0E-05		5
rs72554071	LOC105369689 ; KCNJ8	0.882	0.280	12	21765733	missense variant	G/A;C	snv	1.8E-03; 4.0E-06		4
rs1249958	PPP1R1A	0.925	0.040	12	54582053	missense variant	C/T	snv		2.7E-02	3
rs199601548	PKP2	1.000	0.080	12	32896548	missense variant	G/T	snv	1.4E-04	4.0E-04	2
rs372827955	TBX5	1.000	0.080	12	114356026	missense variant	G/A	snv	4.4E-05	2.8E-05	2
rs1254113735	PKP2			12	32822599	missense variant	G/C	snv			1
rs1370940194	KCNA5			12	5044419	missense variant	C/T	snv	4.4E-06		1