DisGeNET - a database of gene-disease associations

List of associated variants

Prolonged QT interval, C0151878

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
rs1564821090	KCNQ1			11	2572850	missense variant	T/C	snv			1
rs1554958045	KCNQ1	1.000	0.080	11	2445213	stop gained	G/T	snv			3
rs758346045	KCNE1	1.000	0.080	21	34449497	stop gained	G/A;T	snv	2.0E-05; 8.0E-06		3
rs120074185	KCNQ1	0.925	0.120	11	2776032	missense variant	C/A;T	snv	1.1E-05; 1.1E-05		3
rs1554920808	KCNQ1	1.000	0.120	11	2776991	missense variant	A/G	snv			3
rs199472706	KCNQ1	0.925	0.120	11	2571391	missense variant	C/T	snv	4.0E-06	1.0E-04	3
rs199473442	KCNQ1	1.000	0.120	11	2445103	missense variant	C/G;T	snv			3
rs1554430943	KCNH2	0.925	0.160	7	150974821	missense variant	C/T	snv			4
rs121912504	KCNH2	0.851	0.200	7	150951711	missense variant	G/A	snv			6
rs1554919471	KCNQ1	0.925	0.200	11	2768861	frameshift variant	G/-	delins			4
rs866294686	TRIM8 ; LOC105378460	0.683	0.480	10	102657073	stop gained	C/A;T	snv			43
rs886041065	ASXL2	0.677	0.600	2	25743913	frameshift variant	G/-	delins			43