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
rs794728476	KCNH2			7	150974765	inframe insertion	-/ATCTGCGCG	delins			1
rs794728434	KCNH2			7	150952777	frameshift variant	-/CAGG	delins			1
rs794728489	KCNH2			7	150959670	frameshift variant	-/CCAC	ins			1
rs794728467	KCNH2			7	150947380	frameshift variant	-/CCGCC;CGCC	delins			1
rs794728464	KCNH2			7	150947512	splice region variant	-/CTGC	delins			1
rs794728465	KCNH2			7	150947400	frameshift variant	-/G	delins			1
rs794728425	KCNH2	1.000	0.120	7	150958220	frameshift variant	-/GGCGATGGGAGCTGGCCGGG	delins			2
rs767910122	KCNH2	0.724	0.280	7	150948446	frameshift variant	-/GTCCG	ins		4.4E-05	17
rs794728470	KCNH2	1.000	0.120	7	150947367	frameshift variant	-/TCGCCCCG	delins	1.4E-05		2
rs794728508	KCNH2	1.000	0.120	7	150974864	frameshift variant	A/-	del			2
rs3745297	HRC	0.790	0.120	19	49154952	missense variant	A/C	snv	0.41	0.38	10
rs755373114	ANK2	0.925	0.080	4	113341742	missense variant	A/C	snv	7.2E-05		3
rs220733	MAS1	1.000	0.080	6	159897771	intron variant	A/C;G	snv		0.99	3
rs199473256	SCN5A	1.000	0.120	3	38556460	missense variant	A/C;G	snv			2
rs199473387	KCNJ2	1.000	0.120	17	70175952	missense variant	A/C;G	snv			2
rs104893907	NKX2-5	1.000		5	173232776	stop gained	A/C;T	snv			3
rs10757278	CDKN2B-AS1	0.620	0.520	9	22124478	intron variant	A/G	snv		0.40	44
rs120074192	KCNQ1	0.763	0.120	11	2527959	missense variant	A/G	snv			10
rs72544141	ANK2	0.925	0.120	4	113348277	missense variant	A/G	snv	5.5E-04	8.3E-04	4
rs199473405	KCNQ1	1.000	0.120	11	2585249	missense variant	A/G	snv			2
rs1415058026	KCNQ1			11	2588755	missense variant	A/G	snv	4.0E-06		1
rs71584818	KCNA5			12	5044245	missense variant	A/T	snv	2.4E-04	2.0E-04	1
rs794728497	KCNH2			7	150952840	frameshift variant	C/-	delins			1
rs794728506	KCNH2			7	150974918	frameshift variant	C/-	del			1
rs794728507	KCNH2			7	150974912	frameshift variant	C/-	delins			1