DisGeNET - a database of gene-disease associations

Source: CURATED

Variants associated to the Disease: Long QT Syndrome 1 ×

Variants associated to the Gene: KCNQ1 ×

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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
rs199473453	KCNQ1	1.000	0.120	11	2570628	missense variant	G/A	snv			1
rs199472692	KCNQ1	1.000	0.120	11	2570634	missense variant	G/A	snv	1.6E-05	2.8E-05	1
rs397508112	KCNQ1	0.882	0.120	11	2570638	frameshift variant	T/-	del			3
rs179489	KCNQ1	0.925	0.120	11	2570652	missense variant	G/A;C	snv	1.2E-05; 4.0E-06		2
rs139042529	KCNQ1	0.925	0.120	11	2570663	stop gained	C/A;G;T	snv	8.0E-06; 9.4E-04		2
rs199472694	KCNQ1	1.000	0.120	11	2570664	missense variant	G/A	snv	5.2E-05; 4.0E-06	1.4E-05	1
rs763462603	KCNQ1	0.925	0.120	11	2570665	frameshift variant	TCTGGTCCGCC/-;TCTGGTCCGCCTCTGGTCCGCC	delins			2
rs199472695	KCNQ1	1.000	0.120	11	2570668	missense variant	T/A	snv			1
rs199472696	KCNQ1	0.851	0.120	11	2570670	missense variant	C/T	snv	4.0E-06	1.4E-05	3
rs199472697	KCNQ1	1.000	0.120	11	2570671	missense variant	G/A;C;T	snv	4.0E-06		1
rs120074177	KCNQ1	0.925	0.120	11	2570682	missense variant	G/A;C	snv	4.0E-06		2
rs397508115	KCNQ1	0.925	0.200	11	2570683	frameshift variant	C/GG	delins			1
rs199473394	KCNQ1	0.925	0.120	11	2570685	missense variant	G/A	snv		7.0E-06	2
rs199473661	KCNQ1	1.000	0.120	11	2570700	missense variant	T/C;G	snv			1
rs199473397	KCNQ1	1.000	0.120	11	2570701	missense variant	A/C	snv			1
rs199473398	KCNQ1	1.000	0.120	11	2570706	missense variant	G/A;C;T	snv			1
rs104894252	KCNQ1	1.000	0.120	11	2570715	missense variant	G/A;C	snv			1
rs199473662	KCNQ1	0.925	0.120	11	2570718	missense variant	C/A;T	snv	4.0E-06		1
rs120074178	KCNQ1	0.925	0.120	11	2570719	missense variant	G/A;C;T	snv	4.0E-06; 4.0E-06; 1.6E-05		2
rs397508118	KCNQ1	0.851	0.120	11	2570720	frameshift variant	GCGCT/-	delins		1.4E-05	4
rs199473401	KCNQ1	0.925	0.120	11	2570722	missense variant	T/C	snv			1
rs199472698	KCNQ1	0.925	0.200	11	2570725	missense variant	G/A;C	snv	8.0E-06		1
rs199472699	KCNQ1	1.000	0.120	11	2570730	missense variant	G/A;C	snv	4.0E-06		1
rs150172393	KCNQ1	0.925	0.120	11	2570733	missense variant	C/T	snv	2.8E-05	3.5E-05	1
rs199472700	KCNQ1	1.000	0.120	11	2570742	missense variant	A/G	snv	2.0E-05	7.0E-06	1