DisGeNET - a database of gene-disease associations

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
rs773722162	CELSR2	0.882	0.120	1	109272915	inframe insertion	-/AGAAGAGGAGGA	delins	5.2E-05	4.2E-05	5