DisGeNET - a database of gene-disease associations

List of shared variants

Leber Congenital Amaurosis, C0339527

Disease: Familial aplasia of the vermis

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
rs539400286	CEP290	0.763	0.280	12	88086083	stop gained	G/A	snv	1.6E-05	2.1E-05	9
rs386834152	CEP290	0.790	0.280	12	88114488	stop gained	G/A	snv	5.1E-05	4.9E-05	7
rs727503855	CEP290	0.807	0.240	12	88118528	frameshift variant	TT/-;T;TTT	delins		7.1E-06	6
rs758593134	TMTC3 ; CEP290	0.851	0.200	12	88140955	splice donor variant	C/T	snv	4.6E-06		4