DisGeNET - a database of gene-disease associations

List of associated variants

Kidney Diseases, C0022658

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
rs426496	LOC101927318 ; AQP2	1.000	0.040	12	49954295	synonymous variant	T/C	snv	0.77	0.71	3
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs1799883	FABP2	0.658	0.440	4	119320747	missense variant	T/A;C;G	snv	0.73		36
rs216311	VWF	0.882	0.040	12	6019277	missense variant	T/A;C	snv	4.0E-06; 0.69		7
rs1805127	KCNE1	0.732	0.240	21	34449523	missense variant	T/C	snv	0.64	2.0E-04	17
rs2228226	GLI1 ; ARHGAP9	0.851	0.160	12	57472038	missense variant	G/C	snv	0.60	0.68	6
rs713041	GPX4	0.776	0.400	19	1106616	stop gained	T/A;C	snv	4.2E-06; 0.58		16
rs3752462	MYH9	0.827	0.160	22	36314138	splice region variant	T/C	snv	0.57	0.53	7
rs237025	SUMO4 ; TAB2	0.672	0.360	6	149400554	missense variant	G/A	snv	0.55	0.57	26
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs4343	ACE	0.742	0.480	17	63488670	synonymous variant	G/A	snv	0.53		14
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs1801394	FASTKD3 ; MTRR	0.531	0.840	5	7870860	missense variant	A/G	snv	0.47	0.45	101
rs4309	ACE	0.925	0.120	17	63482562	synonymous variant	C/T	snv	0.46	0.36	3
rs4833095	TLR1	0.662	0.480	4	38798089	missense variant	T/C	snv	0.38	0.44	28
rs5443	CDCA3 ; GNB3	0.532	0.760	12	6845711	synonymous variant	C/T	snv	0.36	0.44	106
rs2281999	UNC13B	0.925	0.160	9	35381507	intron variant	C/T	snv	0.35	0.38	3
rs4740	EBI3	0.827	0.240	19	4236999	missense variant	G/A	snv	0.34	0.39	8
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs1063856	VWF	0.763	0.400	12	6044368	missense variant	T/C;G	snv	0.31		14
rs3764880	TLR8-AS1 ; TLR8	0.752	0.320	X	12906707	start lost	A/G	snv	0.31	0.30	11
rs8192678	PPARGC1A	0.667	0.440	4	23814039	missense variant	C/T	snv	0.31	0.26	28
rs315952	IL1RN	0.763	0.400	2	113132727	missense variant	T/A;C	snv	4.0E-06; 0.31		10
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs5370	EDN1	0.630	0.520	6	12296022	missense variant	G/T	snv	0.23	0.21	37