DisGeNET - a database of gene-disease associations

List of associated variants

Meckel-Gruber syndrome, C0265215

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
rs886043303	CEP290	0.851	0.200	12	88120121	frameshift variant	CTCT/-	delins		7.0E-06	5
rs375170572	LOC105371841 ; MKS1 ; LPO	0.827	0.320	17	58218618	splice donor variant	A/G	snv	3.2E-05	3.5E-05	5
rs1555599412	MKS1	0.827	0.320	17	58213011	stop gained	C/A	snv			5
rs386834048	MKS1	0.827	0.320	17	58216088	splice region variant	C/T	snv	1.3E-04	1.3E-04	5
rs786205508	MKS1	0.851	0.200	17	58208542	stop gained	G/A	snv			5
rs121918204	RPGRIP1L	0.827	0.360	16	53652637	stop gained	G/A	snv	6.4E-05	2.1E-05	5
rs267607119	TMEM67	0.827	0.360	8	93808898	missense variant	T/C	snv	4.0E-05	8.4E-05	5
rs765468645	TMEM67	0.882	0.160	8	93765413	stop gained	C/T	snv	8.0E-06	2.1E-05	5
rs886039791	TXNDC15	0.882	0.160	5	134893572	inframe deletion	AGTTTGGCCCCTCAC/-	delins			5
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
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
rs587783017	CEP290	0.851	0.200	12	88055667	frameshift variant	T/-;TT	delins			4
rs747835249	CEP290	0.882	0.200	12	88114418	splice donor variant	CA/-	delins	2.0E-05		4
rs756302731	CEP290	0.851	0.240	12	88083076	frameshift variant	CT/-	delins	7.1E-06		4
rs780624853	CEP290	0.851	0.240	12	88084835	frameshift variant	TTCT/-	delins	1.0E-05	2.8E-05	4
rs863225183	CEP290	0.851	0.240	12	88111799	frameshift variant	T/-	delins		7.0E-06	4
rs886039793	MARK4 ; EXOC3L2	0.882	0.120	19	45227667	frameshift variant	-/G	delins			4
rs386834043	MKS1	0.851	0.320	17	58206553	splice region variant	ATGCCATTGGGACAGCCTCAGGTTTCTGC/-	delins		1.3E-03	4
rs886039804	TMEM138	0.882	0.120	11	61366050	missense variant	A/G	snv			4
rs137853108	TMEM67	0.851	0.320	8	93765617	stop gained	A/T	snv	1.8E-04	2.6E-04	4
rs386834202	TMEM67	0.851	0.320	8	93765574	frameshift variant	AG/-	del	4.0E-06; 1.9E-04	5.6E-05	4
rs758593134	TMTC3 ; CEP290	0.851	0.200	12	88140955	splice donor variant	C/T	snv	4.6E-06		4
rs143149764	B9D1	0.882	0.200	17	19347782	splice donor variant	A/G	snv	2.8E-05	9.1E-05	3