DisGeNET - a database of gene-disease associations

List of associated variants

GLAUCOMA 3, PRIMARY CONGENITAL, A, C1856439

Source: UNIPROT ×

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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
rs79204362	CYP1B1	0.763	0.120	2	38071251	missense variant	C/T	snv	5.8E-03	1.7E-03	2
rs74315339	MYOC	0.807	0.120	1	171652468	missense variant	C/A	snv	9.8E-04	1.3E-04	2
rs104893622	CYP1B1	0.925	0.120	2	38071234	missense variant	C/T	snv			1
rs104893629	CYP1B1	0.925	0.040	2	38071087	missense variant	T/A	snv	1.2E-05	7.0E-06	1
rs148542782	CYP1B1	1.000	0.040	2	38071186	missense variant	G/A;T	snv	2.4E-05; 1.6E-05		1
rs28936701	CYP1B1	1.000	0.040	2	38070949	missense variant	G/A	snv	4.8E-05	3.5E-05	1
rs4986888	CYP1B1	0.925	0.040	2	38071026	missense variant	G/A;C	snv	4.4E-03		1
rs55989760	CYP1B1	0.882	0.120	2	38071195	missense variant	C/G;T	snv	2.9E-04		1
rs56010818	CYP1B1	0.925	0.120	2	38071185	missense variant	C/T	snv	9.2E-05	7.7E-05	1
rs56175199	CYP1B1	1.000	0.040	2	38071044	missense variant	G/A;T	snv	8.0E-06; 2.0E-05		1
rs72549372	CYP1B1	1.000	0.040	2	38070858	missense variant	T/C	snv			1
rs72549376	CYP1B1	1.000	0.040	2	38071023	missense variant	C/G;T	snv	1.2E-05		1
rs72549378	CYP1B1	1.000	0.040	2	38071158	missense variant	A/C	snv			1
rs72549379	CYP1B1	0.925	0.120	2	38071264	missense variant	C/T	snv	1.6E-05		1
rs868208502	CYP1B1	1.000	0.040	2	38070957	missense variant	C/T	snv			1
rs957253424	CYP1B1	1.000	0.040	2	38071129	missense variant	C/A	snv	4.0E-06	7.0E-06	1
rs529769268	CYP1B1-AS1 ; CYP1B1	1.000	0.040	2	38074811	missense variant	G/A;C	snv	1.2E-04; 5.7E-06		1
rs57865060	CYP1B1-AS1 ; CYP1B1	0.827	0.160	2	38074704	missense variant	C/T	snv	1.1E-02	5.7E-03	1
rs72549387	CYP1B1-AS1 ; CYP1B1	0.790	0.120	2	38075218	stop gained	C/G;T	snv	1.7E-04		1
rs104893628	CYP1B1 ; CYP1B1-AS1	1.000	0.040	2	38074695	missense variant	C/G	snv		7.0E-06	1
rs1426636145	CYP1B1 ; CYP1B1-AS1	1.000	0.040	2	38074781	missense variant	T/C	snv	2.4E-05	7.0E-06	1
rs28936700	CYP1B1 ; CYP1B1-AS1	0.776	0.120	2	38075207	missense variant	C/G;T	snv	5.0E-06; 3.2E-04		1
rs59472972	CYP1B1 ; CYP1B1-AS1	1.000	0.040	2	38074797	missense variant	C/T	snv	2.8E-04	9.1E-05	1
rs66583685	CYP1B1 ; CYP1B1-AS1	1.000	0.040	2	38074356	missense variant	G/A;C	snv	1.2E-04		1
rs72549382	CYP1B1 ; CYP1B1-AS1	1.000	0.040	2	38074431	missense variant	C/A;G;T	snv	3.1E-04; 4.0E-06		1