DisGeNET - a database of gene-disease associations

List of associated variants

Meckel-Gruber syndrome, C0265215

Source: CLINVAR ×

Results per page

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
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
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
rs886039792	TXNDC15	0.807	0.280	5	134874531	splice donor variant	G/A	snv			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
rs886039806	KIAA0586	0.851	0.160	14	58467887	missense variant	T/A;C;G	snv			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
rs386833750	CC2D2A	0.807	0.360	4	15563485	stop gained	C/A;G;T	snv	2.0E-05; 2.0E-05		6
rs727503855	CEP290	0.807	0.240	12	88118528	frameshift variant	TT/-;T;TTT	delins		7.1E-06	6
rs775883520	TMEM67	0.851	0.240	8	93780603	missense variant	A/G	snv	8.0E-06	7.0E-06	6
rs370880399	CC2D2A	0.827	0.360	4	15563395	stop gained	C/T	snv	1.0E-04	1.0E-04	5
rs781252161	CC2D2A	0.827	0.360	4	15533284	stop gained	C/T	snv	1.8E-05	7.0E-06	5
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
rs886039805	CEP290	0.925	0.120	12	88129872	frameshift variant	AA/-	delins			5