DisGeNET - a database of gene-disease associations

List of associated variants

Alport Syndrome, C1567741

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
rs61747728	NPHS2	0.701	0.240	1	179557079	missense variant	C/T	snv	3.0E-02	2.8E-02	20
rs188942711	COL4A3 ; MFF-DT	0.763	0.200	2	227253336	missense variant	G/A;T	snv	2.8E-05; 4.0E-06		9
rs281874674	COL4A5	0.827	0.280	X	108597479	missense variant	G/C;T	snv			8
rs104886303	COL4A5	0.851	0.200	X	108695409	missense variant	T/G	snv			4
rs104886308	COL4A5	0.851	0.160	X	108696350	missense variant	G/A;C;T	snv	2.2E-05		4
rs1569492161	COL4A5	0.882	0.280	X	108586729	missense variant	G/C	snv			4
rs104886088	COL4A5	0.882	0.160	X	108582920	stop gained	G/A;T	snv			3
rs104886116	COL4A5	0.882	0.160	X	108591635	missense variant	G/A	snv			3
rs104886302	COL4A5	0.925	0.160	X	108695376	missense variant	G/A;C	snv			3
rs281874657	COL4A5	0.925	0.160	X	108586717	stop gained	C/T	snv			3
rs281874762	COL4A5	0.882	0.160	X	108578114	stop gained	G/A;T	snv	5.5E-06		3
rs78972735	COL4A5	0.882	0.200	X	108622766	missense variant	G/T	snv	3.6E-03	1.3E-03	3
rs104886055	COL4A5	0.925	0.160	X	108573628	missense variant	G/C	snv			2
rs104886056	COL4A5	0.925	0.160	X	108573637	missense variant	G/C;T	snv			2
rs104886060	COL4A5	0.925	0.160	X	108575937	missense variant	G/A;T	snv			2
rs104886061	COL4A5	0.925	0.160	X	108575947	missense variant	G/A;T	snv			2
rs104886063	COL4A5	0.925	0.160	X	108577953	missense variant	G/A;T	snv			2
rs104886066	COL4A5	0.925	0.160	X	108577980	missense variant	G/A;T	snv			2
rs104886067	COL4A5	0.925	0.160	X	108578078	missense variant	G/A	snv			2
rs104886068	COL4A5	0.925	0.160	X	108578319	missense variant	G/A	snv			2
rs104886074	COL4A5	0.925	0.160	X	108578079	missense variant	G/A;T	snv			2
rs104886075	COL4A5	0.925	0.160	X	108578087	missense variant	G/A	snv			2
rs104886076	COL4A5	0.925	0.160	X	108578291	missense variant	G/C	snv			2
rs104886078	COL4A5	0.925	0.160	X	108580722	missense variant	G/T	snv			2
rs104886080	COL4A5	0.925	0.160	X	108580983	missense variant	G/A	snv			2