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
rs1285576172	COL4A3 ; MFF-DT			2	227284345	missense variant	G/A	snv			1
rs137876000	DECR1			8	90042763	missense variant	G/A	snv	2.2E-04	1.1E-04	1
rs1441937959	EFL1	0.763	0.280	15	82240555	missense variant	T/C	snv	8.2E-06		20
rs147121532	PGBD5			1	230316103	3 prime UTR variant	T/C	snv		5.1E-03	1
rs4657093	FCRLB			1	161723213	intron variant	T/C	snv		0.18	1
rs1569497030	COL4A5	1.000		X	108615026	splice donor variant	T/G	snv			2