DisGeNET - a database of gene-disease associations

List of associated variants

Kidney Failure, C0035078

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
rs538166970	ACE	0.925	0.080	17	63496920	missense variant	G/A;C	snv	1.6E-05; 4.0E-06		2
rs28933979	TTR	0.587	0.600	18	31592974	missense variant	G/A;C	snv	1.0E-04		70
rs437168	NPHS1	1.000	0.080	19	35843517	synonymous variant	G/A;C	snv	7.9E-02; 1.2E-05		2
rs2285450	KIRREL2 ; NPHS1	1.000	0.080	19	35851365	synonymous variant	G/A	snv	2.2E-02	4.1E-02	1
rs4821480	MYH9	0.807	0.160	22	36299201	intron variant	G/T	snv		0.78	9
rs3752462	MYH9	0.827	0.160	22	36314138	splice region variant	T/C	snv	0.57	0.53	7
rs2032487	MYH9	0.882	0.080	22	36299382	intron variant	C/T	snv		0.78	3
rs4821481	MYH9	1.000	0.080	22	36299896	intron variant	C/T	snv		0.78	1
rs151340626	CLCN5	0.827	0.200	X	50085987	missense variant	C/T	snv			5
rs104886303	COL4A5	0.851	0.200	X	108695409	missense variant	T/G	snv			4
rs151340624	CLCN5	0.851	0.120	X	50090846	stop gained	C/T	snv			4