DisGeNET - a database of gene-disease associations

Disease: Usher Syndrome

Source: ALL

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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
rs104894396	GJB2	0.672	0.400	13	20189511	stop gained	C/T	snv	5.8E-04	1.1E-04	28
rs774056663	PCDH15	0.925	0.200	10	53823256	frameshift variant	-/ATAGTATT	delins		2.8E-05	2