DisGeNET - a database of gene-disease associations

List of associated variants

Meckel-Gruber syndrome, C0265215

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
rs1060499781	CEP290	0.851	0.240	12	88058846	splice region variant	-/CC	delins			4
rs1060501006	RPGRIP1L	0.925	0.200	16	53671539	frameshift variant	-/A;AA	delins			2
rs1064792983	TMEM67	0.925	0.200	8	93803676	splice donor variant	ATGAGTAATGTAA/GG	delins			2
rs1170451277	CEP290	0.776	0.280	12	88120207	stop gained	G/A	snv		1.4E-05	8
rs1182447072	RPGRIP1L	0.925	0.200	16	53641052	frameshift variant	A/-	del	4.0E-06		2
rs1192112844	CEP290	0.882	0.200	12	88118744	splice acceptor variant	C/A;T	snv	4.2E-06		3
rs1213286417	CEP290	0.882	0.200	12	88089033	frameshift variant	T/-	delins		2.8E-05	3
rs121918198	RPGRIP1L	0.882	0.320	16	53652844	missense variant	T/G	snv	6.4E-05	3.5E-05	3
rs121918204	RPGRIP1L	0.827	0.360	16	53652637	stop gained	G/A	snv	6.4E-05	2.1E-05	5
rs1277577195	RPGRIP1L	0.925	0.200	16	53687912	stop gained	T/A	snv		4.2E-05	2
rs1278679056	CEP290	0.882	0.200	12	88120162	stop gained	T/A	snv		7.0E-06	3
rs137852832	CEP290	0.716	0.280	12	88077263	stop gained	C/A	snv	9.5E-05	6.3E-05	17
rs137853108	TMEM67	0.851	0.320	8	93765617	stop gained	A/T	snv	1.8E-04	2.6E-04	4
rs143149764	B9D1	0.882	0.200	17	19347782	splice donor variant	A/G	snv	2.8E-05	9.1E-05	3
rs1554556213	TMEM67	0.925	0.200	8	93795895	splice region variant	TTAT/ATAA	mnv			2
rs1555201796	CEP290	0.882	0.200	12	88071370	frameshift variant	CTCGT/-	del			3
rs1555205328	CEP290	0.882	0.200	12	88080196	stop gained	C/A	snv			3
rs1555212150	CEP290	0.882	0.200	12	88093873	stop gained	TC/CA	mnv			3
rs1555225566	CEP290	0.882	0.200	12	88129718	frameshift variant	T/-	delins			3
rs1555599412	MKS1	0.827	0.320	17	58213011	stop gained	C/A	snv			5
rs1565822519	CEP290	0.882	0.200	12	88077770	frameshift variant	-/T	delins			3
rs200407856	CC2D2A	0.882	0.320	4	15516005	splice donor variant	G/A	snv	4.7E-05	7.7E-05	3
rs201218801	CEP290	0.851	0.240	12	88059897	splice donor variant	C/T	snv	1.2E-04	6.3E-05	4
rs201502401	CC2D2A	0.882	0.320	4	15599699	missense variant	A/T	snv	2.0E-04	2.0E-04	3
rs201893408	TMEM67	0.695	0.480	8	93795970	missense variant	T/A;C	snv	8.0E-06; 1.5E-04		28