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
rs1042636	CASR	0.672	0.360	3	122284922	missense variant	A/G	snv	0.15	9.0E-02	23
rs1044498	ENPP1	0.752	0.360	6	131851228	missense variant	A/C;G	snv	0.19		15
rs104886303	COL4A5	0.851	0.200	X	108695409	missense variant	T/G	snv			4
rs11739136	KCNIP1 ; KCNMB1	0.827	0.200	5	170383792	missense variant	C/T	snv	9.9E-02	8.7E-02	10
rs118203979	CLDN19	0.925	0.080	1	42740005	missense variant	C/T	snv	9.0E-05	2.8E-05	2
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs121908144	BSND	0.882	0.240	1	54999221	missense variant	T/C	snv	2.0E-05		3
rs1267969615	ACE	0.532	0.760	17	63490960	missense variant	T/C	snv	4.0E-06		100
rs151340624	CLCN5	0.851	0.120	X	50090846	stop gained	C/T	snv			4
rs151340626	CLCN5	0.827	0.200	X	50085987	missense variant	C/T	snv			5
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	131
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv			121
rs188942711	COL4A3 ; MFF-DT	0.763	0.200	2	227253336	missense variant	G/A;T	snv	2.8E-05; 4.0E-06		9
rs200640958	TRPC6	1.000	0.080	11	101471303	synonymous variant	G/A;C	snv	8.0E-06; 1.6E-05		1
rs2032487	MYH9	0.882	0.080	22	36299382	intron variant	C/T	snv		0.78	3
rs2285450	KIRREL2 ; NPHS1	1.000	0.080	19	35851365	synonymous variant	G/A	snv	2.2E-02	4.1E-02	1
rs28933979	TTR	0.587	0.600	18	31592974	missense variant	G/A;C	snv	1.0E-04		70
rs3024912	LOC105373805	0.925	0.120	2	191028361	intron variant	A/C	snv		0.29	2
rs367825197	PODXL	0.925	0.080	7	131509412	stop gained	G/A	snv	4.0E-06		2
rs3752462	MYH9	0.827	0.160	22	36314138	splice region variant	T/C	snv	0.57	0.53	7
rs3759126	AQP2	0.882	0.080	12	49950079	upstream gene variant	A/G	snv		0.23	3
rs4281481	CCDC179 ; GAS2	0.882	0.080	11	22859013	intron variant	C/G	snv		0.36	3
rs4362	ACE	0.807	0.240	17	63496400	missense variant	T/C;G	snv	0.52; 1.2E-05	0.51	9
rs437168	NPHS1	1.000	0.080	19	35843517	synonymous variant	G/A;C	snv	7.9E-02; 1.2E-05		2
rs4821480	MYH9	0.807	0.160	22	36299201	intron variant	G/T	snv		0.78	9