DisGeNET - a database of gene-disease associations

List of associated variants

Nephronophthisis, C0687120

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
rs201893408	TMEM67	0.695	0.480	8	93795970	missense variant	T/A;C	snv	8.0E-06; 1.5E-04		28
rs137852832	CEP290	0.716	0.280	12	88077263	stop gained	C/A	snv	9.5E-05	6.3E-05	17
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
rs1565329461	DYNC2H1	0.851	0.200	11	103135949	splice donor variant	G/A	snv			9
rs140511594	TTC21B ; TTC21B-AS1	0.742	0.360	2	165941111	missense variant	G/A	snv	1.3E-04	1.1E-04	9
rs771148519	WDR19	0.807	0.200	4	39225027	stop gained	C/G	snv	1.7E-05	1.4E-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
rs267607116	TMEM67	0.851	0.160	8	93808861	missense variant	G/A;C	snv			8
rs386834152	CEP290	0.790	0.280	12	88114488	stop gained	G/A	snv	5.1E-05	4.9E-05	7
rs1554555063	TMEM67	0.882	0.160	8	93791324	splice region variant	G/A	snv			7
rs727503855	CEP290	0.807	0.240	12	88118528	frameshift variant	TT/-;T;TTT	delins		7.1E-06	6
rs373909351	IQCB1	0.882	0.200	3	121772659	stop gained	G/A;C	snv	2.8E-05; 4.0E-06		6
rs751527253	NPHP3-ACAD11 ; NPHP3	0.827	0.240	3	132689264	splice acceptor variant	CT/-	del		2.6E-04	6
rs386834157	CEP290	0.827	0.280	12	88136697	frameshift variant	ATCT/-	delins	5.6E-05	8.4E-05	5
rs62640570	CEP290	0.827	0.280	12	88093904	frameshift variant	T/-;TT	delins	1.7E-05	9.1E-05	5
rs886043303	CEP290	0.851	0.200	12	88120121	frameshift variant	CTCT/-	delins		7.0E-06	5
rs747165335	WDR19	0.882	0.200	4	39278156	frameshift variant	ACGG/-	delins	8.4E-06		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