DisGeNET - a database of gene-disease associations

List of associated variants

LEBER CONGENITAL AMAUROSIS 10 (disorder), C1857821

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
rs137852832	CEP290	0.716	0.280	12	88077263	stop gained	C/A	snv	9.5E-05	6.3E-05	17
rs137852834	CEP290	0.763	0.280	12	88083936	stop gained	T/A	snv	5.5E-05	9.1E-05	13
rs376493409	CEP290	0.742	0.280	12	88083161	stop gained	G/A;T	snv	7.0E-05		12
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
rs1170451277	CEP290	0.776	0.280	12	88120207	stop gained	G/A	snv		1.4E-05	8
rs760915898	CEP290	0.776	0.280	12	88086038	splice donor variant	C/T	snv	5.4E-05	9.1E-05	8
rs776645403	CEP290	0.776	0.280	12	88125357	stop gained	G/A	snv	3.8E-05	2.1E-05	8
rs965522059	CEP290	0.776	0.280	12	88125370	splice acceptor variant	C/T	snv	1.5E-05		8
rs575767207	CEP290	0.827	0.280	12	88079112	stop gained	G/A;C	snv	2.6E-05		5
rs797044604	CEP290	0.827	0.280	12	88086450	stop gained	C/A	snv			5
rs587783017	CEP290	0.851	0.200	12	88055667	frameshift variant	T/-;TT	delins			4
rs587783016	CEP290	0.925	0.200	12	88089157	stop gained	G/A	snv	4.2E-06		2
rs1226324483	CEP290	1.000	0.040	12	88083083	stop gained	G/A	snv			1
rs137852833	CEP290	1.000	0.040	12	88111320	stop gained	A/C	snv	5.3E-06	2.1E-05	1
rs587783009	CEP290	1.000	0.040	12	88118482	splice donor variant	C/T	snv	1.2E-05		1
rs587783010	CEP290	1.000	0.040	12	88111320	frameshift variant	AA/-	delins			1