DisGeNET - a database of gene-disease associations

List of shared variants

Hematuria, Benign Familial, C0241908

Disease: ALPORT SYNDROME 3, AUTOSOMAL DOMINANT

Source: ALL

Results per page

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
rs1060499654	COL4A3 ; MFF-DT	0.882	0.120	2	227280587	stop gained	C/T	snv		7.0E-06	3
rs121912824	COL4A3 ; MFF-DT	0.882	0.120	2	227307898	stop gained	C/T	snv	4.0E-06	2.8E-05	3
rs1346138010	COL4A3 ; MFF-DT	0.882	0.120	2	227246688	stop gained	G/T	snv	8.0E-06	2.1E-05	3
rs1363680371	MFF-DT ; COL4A3	0.882	0.120	2	227254659	frameshift variant	-/T	delins			3
rs757341933	MFF-DT ; COL4A3	0.882	0.120	2	227266473	missense variant	G/A;C	snv	2.4E-05		3