DisGeNET - a database of gene-disease associations

List of associated variants

ALPORT SYNDROME 3, AUTOSOMAL DOMINANT, C4746547

Source: ALL

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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
rs1175052474	COL4A3 ; MFF-DT	1.000		2	227295295	inframe insertion	-/AGG	delins		7.0E-06	5
rs121912861	COL4A4	0.882	0.160	2	227022135	stop gained	G/A	snv	8.0E-06		4
rs1060499654	COL4A3 ; MFF-DT	0.882	0.120	2	227280587	stop gained	C/T	snv		7.0E-06	3
rs121912824	COL4A3 ; MFF-DT	0.882	0.120	2	227307898	stop gained	C/T	snv	4.0E-06	2.8E-05	3
rs1346138010	COL4A3 ; MFF-DT	0.882	0.120	2	227246688	stop gained	G/T	snv	8.0E-06	2.1E-05	3
rs1363680371	MFF-DT ; COL4A3	0.882	0.120	2	227254659	frameshift variant	-/T	delins			3
rs757341933	MFF-DT ; COL4A3	0.882	0.120	2	227266473	missense variant	G/A;C	snv	2.4E-05		3
rs267606745	COL4A3 ; MFF-DT	0.925		2	227295044	missense variant	G/A	snv	8.0E-06	1.4E-05	2
rs1553676221	COL4A4	0.925		2	227094122	splice donor variant	ACCACTTGATCCTGGGAGGCCCTGCAGGCCTGGTGCTCCAGGCAAGCCAGGT/-	delins			2
rs369922627	COL4A4	0.925		2	227008228	stop gained	A/C;G	snv	1.6E-05	7.0E-06	2
rs200287952	MFF-DT ; COL4A3	1.000		2	227277511	missense variant	G/A	snv	1.1E-04	1.5E-04	2
rs760846085	MFF-DT ; COL4A3	0.925		2	227310823	frameshift variant	T/-	del	8.0E-06	2.1E-05	2
rs766900945	MFF-DT ; COL4A3	0.925		2	227290785	stop gained	C/A;T	snv	4.0E-06; 8.0E-06		2
rs1559890352	COL4A3 ; MFF-DT	1.000		2	227276459	missense variant	G/C	snv			1
rs202147112	COL4A3 ; MFF-DT	1.000		2	227245972	missense variant	G/A	snv	2.8E-05	7.0E-06	1
rs573527081	COL4A3 ; MFF-DT	1.000		2	227253637	missense variant	C/A;T	snv	1.2E-05; 8.8E-05		1
rs760462252	COL4A3 ; MFF-DT	1.000		2	227307839	missense variant	C/T	snv	1.6E-05	7.0E-06	1
rs772708743	COL4A3 ; MFF-DT	1.000		2	227256035	missense variant	G/A	snv	2.0E-05		1
rs1005389790	COL4A4	1.000		2	227101899	missense variant	C/A;T	snv			1
rs1553622675	COL4A4	1.000		2	227025802	missense variant	C/A	snv			1
rs1553624029	COL4A4	1.000		2	227027920	missense variant	C/T	snv			1
rs1553625684	COL4A4	1.000		2	227030581	frameshift variant	-/T	delins			1
rs1553639043	COL4A4	1.000		2	227051159	splice acceptor variant	C/G	snv			1
rs1559394354	COL4A4	1.000		2	227007578	frameshift variant	G/-	del			1
rs1559455617	COL4A4	1.000		2	227032216	missense variant	C/A	snv			1