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	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs7219669		17	70525720	intergenic variant	G/T	snv		0.45	1
rs1370940194	KCNA5	12	5044419	missense variant	C/T	snv	4.4E-06		1
rs71584818	KCNA5	12	5044245	missense variant	A/T	snv	2.4E-04	2.0E-04	1
rs757549384	KCNH2	7	150948478	synonymous variant	C/T	snv	4.0E-06		1
rs794728426	KCNH2	7	150958163	frameshift variant	CGCG/GCTTTT	delins			1
rs794728428	KCNH2	7	150958116	frameshift variant	TCGGCCG/-	delins			1
rs794728434	KCNH2	7	150952777	frameshift variant	-/CAGG	delins			1
rs794728456	KCNH2	7	150947794	frameshift variant	G/-	delins			1
rs794728457	KCNH2	7	150947782	frameshift variant	TCTCCCC/-	delins			1
rs794728464	KCNH2	7	150947512	splice region variant	-/CTGC	delins			1
rs794728465	KCNH2	7	150947400	frameshift variant	-/G	delins			1
rs794728467	KCNH2	7	150947380	frameshift variant	-/CCGCC;CGCC	delins			1
rs794728472	KCNH2	7	150947344	frameshift variant	G/-	delins			1
rs794728476	KCNH2	7	150974765	inframe insertion	-/ATCTGCGCG	delins			1
rs794728489	KCNH2	7	150959670	frameshift variant	-/CCAC	ins			1
rs794728497	KCNH2	7	150952840	frameshift variant	C/-	delins			1
rs794728499	KCNH2	7	150951578	frameshift variant	G/-	delins			1
rs794728500	KCNH2	7	150951013	frameshift variant	G/-	delins			1
rs794728506	KCNH2	7	150974918	frameshift variant	C/-	del			1
rs794728507	KCNH2	7	150974912	frameshift variant	C/-	delins			1
rs1057128	KCNQ1	11	2776007	synonymous variant	G/A	snv	0.21	0.16	1
rs1415058026	KCNQ1	11	2588755	missense variant	A/G	snv	4.0E-06		1
rs794728563	KCNQ1	11	2445260	frameshift variant	GCCCGGCGCCCCAGGTCCCGCGC/-	delins			1
rs397508101	KCNQ1-AS1 ; KCNQ1	11	2847812	inframe deletion	CCA/-	delins			1
rs1339374391	LMNA	1	156135973	synonymous variant	C/T	snv	4.0E-06		1