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 EXOME	AF GENOME	Num. diseases
rs1060499781	CEP290	0.851	0.240	12	88058846	splice region variant	-/CC	delins			4
rs1060500123	OFD1	0.925	0.200	X	13767252	stop gained	C/T	snv			2
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
rs1114167302	MKS1	0.925	0.320	17	58216687	missense variant	C/A	snv			1
rs11230683	TMEM216	0.882	0.320	11	61397797	stop gained	C/A;G;T	snv	2.8E-03; 4.0E-06; 8.0E-05		3
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
rs121434350	AHI1	0.882	0.240	6	135455750	missense variant	A/T	snv			2
rs121434351	AHI1	0.925	0.240	6	135433125	missense variant	C/T	snv	2.8E-05	2.8E-05	2
rs121918130	INPP5E	0.716	0.360	9	136433182	missense variant	G/A;T	snv	3.4E-05; 4.2E-06		18
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
rs1276908141	AHI1	1.000	0.160	6	135433187	synonymous variant	C/T	snv	4.0E-06		1
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
rs1431917892	INPP5E	1.000	0.160	9	136429688	frameshift variant	C/-	del	4.0E-06		1
rs144610914	PIBF1	0.882	0.240	13	72908550	missense variant	A/G	snv	5.8E-05	2.1E-05	2
rs150291837	C2CD3	1.000	0.160	11	74049431	missense variant	C/T	snv	1.6E-05	2.8E-05	1
rs1554208431	AHI1	1.000	0.160	6	135453426	frameshift variant	A/-	delins			1