DisGeNET - a database of gene-disease associations

Source: CLINVAR ×

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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
rs281865192	CEP290	0.742	0.280	12	88101183	intron variant	T/C	snv		2.8E-04	11
rs727503855	CEP290	0.807	0.240	12	88118528	frameshift variant	TT/-;T;TTT	delins		7.1E-06	6