DisGeNET - a database of gene-disease associations

List of associated variants

Hyperuricemic Nephropathy, Familial Juvenile 1, C4551496

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
rs1555487316	UMOD	0.882	0.240	16	20348247	missense variant	A/C	snv			5
rs121917772	UMOD	0.882	0.240	16	20348298	missense variant	A/C	snv			3
rs121917769	UMOD	0.925	0.240	16	20348925	missense variant	A/G	snv			2
rs1555487318	UMOD	0.925	0.240	16	20348249	missense variant	T/G	snv			2
rs1555487621	UMOD	0.925	0.240	16	20348943	missense variant	A/C	snv			2
rs28934583	UMOD	0.925	0.240	16	20348652	missense variant	A/C;G	snv			2
rs886043751	UMOD	0.925	0.240	16	20348557	stop gained	G/C;T	snv			2
rs1060499657	UMOD	1.000	0.240	16	20348714	missense variant	T/C	snv			1
rs121917768	UMOD	1.000	0.240	16	20349071	missense variant	C/G;T	snv			1
rs121917770	UMOD	1.000	0.240	16	20348918	missense variant	T/C	snv			1
rs121917771	UMOD	1.000	0.240	16	20348537	missense variant	C/T	snv			1
rs121917774	UMOD	1.000	0.240	16	20348484	missense variant	C/A	snv			1
rs1447458978	UMOD	1.000	0.240	16	20348594	missense variant	G/A	snv	4.8E-06		1
rs1555486021	UMOD	1.000	0.240	16	20341205	missense variant	C/T	snv			1
rs1555487528	UMOD	1.000	0.240	16	20348746	inframe deletion	GCGCCAGTACTCGTCCAGGGTGCGGTG/-	del			1
rs28934582	UMOD	1.000	0.240	16	20348858	missense variant	C/T	snv			1
rs398122388	UMOD	1.000	0.240	16	20348558	missense variant	C/G	snv			1
rs780462125	UMOD	1.000	0.240	16	20348975	missense variant	A/T	snv	1.1E-05	2.1E-05	1