DisGeNET - a database of gene-disease associations

List of shared variants

Hematuria, Benign Familial, C0241908

Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE

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
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
rs769783985	COL4A4	0.925	0.120	2	227052395	missense variant	C/G;T	snv	1.2E-05	2.1E-05	3
rs121912827	MFF-DT ; COL4A3	0.925	0.120	2	227289222	missense variant	G/A;T	snv	2.0E-05		2
rs121912860	COL4A4	0.925	0.120	2	227055971	missense variant	C/T	snv		7.0E-06	2