DisGeNET - a database of gene-disease associations

List of associated variants

MECKEL SYNDROME, TYPE 4, C1970161

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
rs386834158	CEP290	0.851	0.280	12	88077790	frameshift variant	T/-	delins	2.2E-05	7.0E-06	10
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
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
rs386834148	CEP290	0.925	0.280	12	88121136	frameshift variant	AT/-	delins	7.2E-05	7.0E-05	2
rs386834149	CEP290	0.925	0.280	12	88120185	frameshift variant	T/-	delins		7.0E-06	2
rs863225185	CEP290	0.925	0.280	12	88130283	stop gained	A/C	snv			2
rs137852835	CEP290	1.000	0.240	12	88130324	stop gained	G/A;C	snv	4.1E-06; 4.1E-06		1
rs386834151	CEP290	1.000	0.240	12	88115146	frameshift variant	TT/-	delins			1
rs386834153	CEP290	1.000	0.240	12	88139153	stop gained	C/A;G	snv			1
rs386834155	CEP290	1.000	0.240	12	88092695	frameshift variant	TT/-	delins			1
rs386834156	CEP290	1.000	0.240	12	88136702	frameshift variant	CT/A	delins			1
rs386834159	CEP290	1.000	0.240	12	88071786	frameshift variant	A/-	delins			1
rs751361090	CEP290	1.000	0.240	12	88071890	frameshift variant	-/A	delins	2.5E-05		1