DisGeNET - a database of gene-disease associations

List of associated variants

Hematuria, C0018965

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
rs1559643753	COL4A4	1.000	0.120	2	227108597	missense variant	C/T	snv			2
rs1569497030	COL4A5	1.000		X	108615026	splice donor variant	T/G	snv			2
rs200287952	MFF-DT ; COL4A3	1.000		2	227277511	missense variant	G/A	snv	1.1E-04	1.5E-04	2
rs398123643	COL6A1	1.000	0.120	21	45989626	missense variant	G/A	snv			2
rs761310536	COL6A2	1.000	0.120	21	46121115	missense variant	G/A	snv	1.2E-05	7.0E-06	2
rs797044813	CLCN5	1.000	0.120	X	50090490	stop gained	C/T	snv			2