DisGeNET - a database of gene-disease associations

Source: UNIPROT

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		1
rs199472696	KCNQ1	0.851	0.120	11	2570670	missense variant	C/T	snv	4.0E-06	1.4E-05	1