DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: hearing impairment ×

Variants associated to the Gene: TECTA ×

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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
rs1565519673	TECTA	1.000	0.120	11	121118355	frameshift variant	-/T	ins			2
rs1565536400	TECTA	1.000	0.120	11	121168792	stop gained	C/T	snv			2
rs1565541888	TECTA	1.000	0.120	11	121187999	splice region variant	G/A	snv			2
rs368050948	TECTA	1.000	0.120	11	121130006	stop gained	C/A;T	snv	3.2E-05	1.4E-04	2