DisGeNET - a database of gene-disease associations

List of associated variants

Hematuria, C0018965

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
rs199469465	SRCAP	0.672	0.560	16	30737343	stop gained	C/A;T	snv			49
rs1441937959	EFL1	0.763	0.280	15	82240555	missense variant	T/C	snv	8.2E-06		19
rs569681869	COL4A4	0.925	0.040	2	227059468	missense variant	C/G	snv	7.2E-05	3.5E-05	6
rs533297350	COL4A4	1.000	0.040	2	227010441	missense variant	C/T	snv	7.2E-05	3.5E-05	5
rs1556411578	COL4A5			X	108595507	coding sequence variant	AAGGTGACA/-	delins			4
rs779593707	CLCNKB			1	16049884	stop gained	-/AATA	delins	1.2E-05	7.0E-06	2
rs121912861	COL4A4	0.882	0.160	2	227022135	stop gained	G/A	snv	8.0E-06		2
rs1559643753	COL4A4	1.000	0.120	2	227108597	missense variant	C/T	snv			2
rs769783985	COL4A4	0.925	0.120	2	227052395	missense variant	C/G;T	snv	1.2E-05	2.1E-05	2
rs1556463583	COL4A5			X	108695350	frameshift variant	-/A	delins			2
rs1569497030	COL4A5	1.000		X	108615026	splice donor variant	T/G	snv			2
rs121909585	C3	0.925	0.120	19	6692971	missense variant	C/T	snv			1
rs797044813	CLCN5	1.000	0.120	X	50090490	stop gained	C/T	snv			1
rs398123643	COL6A1	1.000	0.120	21	45989626	missense variant	G/A	snv			1
rs200287952	MFF-DT ; COL4A3	1.000		2	227277511	missense variant	G/A	snv	1.1E-04	1.5E-04	1