DisGeNET - a database of gene-disease associations

List of associated variants

Medullary Cystic Kidney Disease Type 2, C1859040

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
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
rs886043751	UMOD	0.925	0.240	16	20348557	stop gained	G/C;T	snv			2
rs28934584	UMOD	1.000	0.120	16	20348994	missense variant	C/A;G;T	snv	5.3E-06		1
rs878855325	UMOD	1.000	0.120	16	20349012	protein altering variant	CTTCGGGGCAGA/AGGAGGCGG	delins			1