DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: hearing impairment ×

Variants associated to the Gene: KCNE1 ×

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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
rs758346045	KCNE1	1.000	0.080	21	34449497	stop gained	G/A;T	snv	2.0E-05; 8.0E-06		3
rs1244688796	KCNE1	0.925	0.200	21	34449584	stop gained	C/T	snv	4.0E-06		2
rs779124360	KCNE1	0.925	0.200	21	34449585	stop gained	C/T	snv	4.0E-06		2