DisGeNET - a database of gene-disease associations

Source: CURATED

Variants associated to the Disease: Romano-Ward Syndrome ×

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
rs17215500	KCNQ1	0.807	0.240	11	2768881	stop gained	C/G;T	snv	1.0E-04		5
rs199472696	KCNQ1	0.851	0.120	11	2570670	missense variant	C/T	snv	4.0E-06	1.4E-05	3
rs397508111	KCNQ1	0.882	0.120	11	2528023	splice region variant	G/A;C	snv	1.2E-05		3
rs397508112	KCNQ1	0.882	0.120	11	2570638	frameshift variant	T/-	del			3
rs794728565	KCNQ1	0.882	0.120	11	2527943	frameshift variant	G/-	delins			3
rs786204778	KCNQ1	0.925	0.120	11	2572891	frameshift variant	T/-	del	4.0E-06		2