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
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs5443	CDCA3 ; GNB3	0.532	0.760	12	6845711	synonymous variant	C/T	snv	0.36	0.44	106
rs104894230	HRAS ; LRRC56	0.564	0.600	11	534288	missense variant	C/A;G;T	snv			73
rs28933979	TTR	0.587	0.600	18	31592974	missense variant	G/A;C	snv	1.0E-04		70
rs104894228	LRRC56 ; HRAS	0.605	0.560	11	534286	missense variant	C/A;G;T	snv			48
rs10757278	CDKN2B-AS1	0.620	0.520	9	22124478	intron variant	A/G	snv		0.40	44
rs1805123	KCNH2	0.724	0.280	7	150948446	missense variant	T/A;C;G	snv	1.3E-05; 0.18; 8.4E-06		18
rs1805127	KCNE1	0.732	0.240	21	34449523	missense variant	T/C	snv	0.64	2.0E-04	17
rs767910122	KCNH2	0.724	0.280	7	150948446	frameshift variant	-/GTCCG	ins		4.4E-05	17
rs794728448	KCNH2	0.724	0.280	7	150948445	frameshift variant	CT/G	delins			17
rs143624519	MAPT	0.724	0.240	17	45991484	missense variant	G/A;T	snv	1.5E-03; 1.2E-05		17
rs137854618	SCN5A	0.742	0.120	3	38566426	missense variant	C/A;T	snv	8.0E-06		15
rs2200733		0.752	0.240	4	110789013	intergenic variant	C/T	snv		0.18	12
rs60682848	LMNA	0.790	0.200	1	156134838	stop gained	C/T	snv		7.0E-06	11
rs80338777	CACNA1S	0.827	0.200	1	201077915	missense variant	C/A;T	snv	1.2E-05		10
rs3745297	HRC	0.790	0.120	19	49154952	missense variant	A/C	snv	0.41	0.38	10
rs1805128	KCNE1	0.776	0.160	21	34449382	missense variant	C/T	snv	9.4E-03		10
rs120074192	KCNQ1	0.763	0.120	11	2527959	missense variant	A/G	snv			10
rs7626962	SCN5A	0.790	0.080	3	38579416	missense variant	G/A;T	snv	1.6E-05; 5.9E-03		10
rs3766871	RYR2	0.790	0.240	1	237614784	missense variant	G/A;T	snv	4.0E-02		9
rs104894503	TPM1	0.776	0.160	15	63060899	missense variant	G/A	snv	1.6E-05	2.8E-05	9
rs794728708	RYR2	0.827	0.120	1	237377386	missense variant	G/A;T	snv			8
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
rs199473605	SCN5A	0.851	0.120	3	38560374	missense variant	C/G;T	snv	4.8E-05; 4.0E-06		7