DisGeNET - a database of gene-disease associations

List of associated variants

JOUBERT SYNDROME 5, C1857780

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
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
rs771454167	CEP290	0.827	0.240	12	88062772	frameshift variant	C/-	del	4.7E-05; 5.2E-06	2.1E-05	6
rs386834157	CEP290	0.827	0.280	12	88136697	frameshift variant	ATCT/-	delins	5.6E-05	8.4E-05	5
rs575767207	CEP290	0.827	0.280	12	88079112	stop gained	G/A;C	snv	2.6E-05		5
rs62640570	CEP290	0.827	0.280	12	88093904	frameshift variant	T/-;TT	delins	1.7E-05	9.1E-05	5
rs797044604	CEP290	0.827	0.280	12	88086450	stop gained	C/A	snv			5
rs1060499781	CEP290	0.851	0.240	12	88058846	splice region variant	-/CC	delins			4
rs201218801	CEP290	0.851	0.240	12	88059897	splice donor variant	C/T	snv	1.2E-04	6.3E-05	4
rs756302731	CEP290	0.851	0.240	12	88083076	frameshift variant	CT/-	delins	7.1E-06		4
rs780624853	CEP290	0.851	0.240	12	88084835	frameshift variant	TTCT/-	delins	1.0E-05	2.8E-05	4
rs863225183	CEP290	0.851	0.240	12	88111799	frameshift variant	T/-	delins		7.0E-06	4
rs62635288	CEP290 ; TMTC3	0.882	0.240	12	88141287	missense variant	C/A	snv			3
rs1465414886	CEP290	1.000	0.200	12	88118660	stop gained	G/A;C	snv			2
rs267606719	CEP290	0.925	0.240	12	88077227	stop gained	C/A	snv			2
rs386834148	CEP290	0.925	0.280	12	88121136	frameshift variant	AT/-	delins	7.2E-05	7.0E-05	2