DisGeNET - a database of gene-disease associations

List of associated variants

Familial aplasia of the vermis, C0431399

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 GENOME	Num. diseases
rs281865192	CEP290	0.742	0.280	12	88101183	intron variant	T/C	snv	2.8E-04	11
rs386833760	CC2D2A	0.790	0.360	4	15587929	splice donor variant	G/-	delins	1.9E-04	11
rs886039809	KIAA0586	0.807	0.480	14	58498824	frameshift variant	A/-	del		11
rs1170451277	CEP290	0.776	0.280	12	88120207	stop gained	G/A	snv	1.4E-05	8
rs1559307932	PDE6D	0.807	0.360	2	231737190	frameshift variant	-/C	ins		8
rs886039794	LRRCC1 ; LOC105375933	0.851	0.480	8	85109594	splice acceptor variant	G/C	snv		8
rs727503855	CEP290	0.807	0.240	12	88118528	frameshift variant	TT/-;T;TTT	delins	7.1E-06	6
rs773386777	CEP290	1.000	0.160	12	88093977	splice acceptor variant	T/C	snv		6
rs1555599412	MKS1	0.827	0.320	17	58213011	stop gained	C/A	snv		5
rs769705065	CLUAP1	0.882	0.160	16	3520011	stop gained	C/T	snv	7.0E-06	5
rs886039808	CEP290	0.851	0.480	12	88083848	stop gained	C/T	snv		5
rs886039810	TMEM67	0.851	0.480	8	93809830	missense variant	G/C	snv		5
rs886043303	CEP290	0.851	0.200	12	88120121	frameshift variant	CTCT/-	delins	7.0E-06	5
rs1060499781	CEP290	0.851	0.240	12	88058846	splice region variant	-/CC	delins		4
rs386833751	CC2D2A	0.851	0.320	4	15567676	splice acceptor variant	G/-	delins		4
rs386833759	CC2D2A	0.851	0.320	4	15580171	splice region variant	AGTA/-	delins	7.0E-06	4
rs386834043	MKS1	0.851	0.320	17	58206553	splice region variant	ATGCCATTGGGACAGCCTCAGGTTTCTGC/-	delins	1.3E-03	4
rs587783017	CEP290	0.851	0.200	12	88055667	frameshift variant	T/-;TT	delins		4
rs863225183	CEP290	0.851	0.240	12	88111799	frameshift variant	T/-	delins	7.0E-06	4
rs1213286417	CEP290	0.882	0.200	12	88089033	frameshift variant	T/-	delins	2.8E-05	3
rs1278679056	CEP290	0.882	0.200	12	88120162	stop gained	T/A	snv	7.0E-06	3
rs1554972547	TMEM216	0.882	0.320	11	61393883	splice acceptor variant	G/A	snv		3
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