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
rs201893408	TMEM67	0.695	0.480	8	93795970	missense variant	T/A;C	snv	8.0E-06; 1.5E-04		28
rs752362727	TMEM67	0.716	0.480	8	93786255	missense variant	C/T	snv	2.0E-05		22
rs121918130	INPP5E	0.716	0.360	9	136433182	missense variant	G/A;T	snv	3.4E-05; 4.2E-06		18
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
rs386833760	CC2D2A	0.790	0.360	4	15587929	splice donor variant	G/-	delins		1.9E-04	11
rs281865192	CEP290	0.742	0.280	12	88101183	intron variant	T/C	snv		2.8E-04	11
rs886039809	KIAA0586	0.807	0.480	14	58498824	frameshift variant	A/-	del			11
rs886039807	TMEM231	0.776	0.480	16	75541466	non coding transcript exon variant	A/G	snv	4.2E-06		11
rs386834158	CEP290	0.851	0.280	12	88077790	frameshift variant	T/-	delins	2.2E-05	7.0E-06	10
rs754279998	MKS1	0.776	0.360	17	58208153	inframe deletion	GAG/-	delins	2.0E-05	1.4E-05	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
rs752659088	KIAA0753	0.882	0.240	17	6624770	synonymous variant	G/A	snv	6.5E-05		8
rs886039794	LRRCC1 ; LOC105375933	0.851	0.480	8	85109594	splice acceptor variant	G/C	snv			8
rs1559307932	PDE6D	0.807	0.360	2	231737190	frameshift variant	-/C	ins			8
rs386834180	TMEM67	0.776	0.360	8	93781725	missense variant	T/C	snv	2.0E-05	4.2E-05	8
rs386834152	CEP290	0.790	0.280	12	88114488	stop gained	G/A	snv	5.1E-05	4.9E-05	7
rs863225235	TMEM67	0.790	0.360	8	93782444	missense variant	C/A	snv	4.0E-06	7.0E-06	7
rs764109067	ARL13B	0.851	0.280	3	94036664	missense variant	G/A;T	snv	4.0E-06		6
rs886039811	B9D1	0.807	0.320	17	19357875	missense variant	A/G	snv	4.0E-06		6
rs386833750	CC2D2A	0.807	0.360	4	15563485	stop gained	C/A;G;T	snv	2.0E-05; 2.0E-05		6