DisGeNET - a database of gene-disease associations

List of associated variants

Alport Syndrome, X-Linked, C1567742

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
rs104886142	COL4A5	0.790	0.280	X	108598793	missense variant	G/A	snv	8.7E-05	4.7E-05	10
rs200107989	COL4A3 ; MFF-DT	0.882	0.280	2	227294985	missense variant	C/T	snv	2.0E-04	3.6E-04	3
rs766550724	COL4A4	0.882	0.280	2	227007354	missense variant	G/A	snv	1.2E-05	1.4E-05	3
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
rs72648341	COL1A1	1.000	0.160	17	50194792	missense variant	C/T	snv			1
rs768607170	PAX2	1.000	0.160	10	100749772	frameshift variant	G/-;GG;GGG	delins			1
rs77453353	PAX2	1.000	0.160	10	100749772	frameshift variant	G/-;GG;GGG	delins			1