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
rs8731	GPN1 ; SUPT7L			2	27650459	3 prime UTR variant	C/G	snv		0.22	1
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
rs1799864	CCR2	0.572	0.680	3	46357717	missense variant	G/A	snv	0.13	0.12	68
rs5186	AGTR1	0.630	0.560	3	148742201	3 prime UTR variant	A/C	snv	0.23	0.21	38
rs121908117	ATRIP ; TREX1 ; ATRIP-TREX1	0.708	0.440	3	48466707	missense variant	G/A	snv			17
rs1799883	FABP2	0.658	0.440	4	119320747	missense variant	T/A;C;G	snv	0.73		36
rs4833095	TLR1	0.662	0.480	4	38798089	missense variant	T/C	snv	0.38	0.44	28
rs8192678	PPARGC1A	0.667	0.440	4	23814039	missense variant	C/T	snv	0.31	0.26	28
rs1332629192	ALB	0.851	0.200	4	73404374	missense variant	C/T	snv			7
rs3923647	TLR1	0.925	0.080	4	38797918	missense variant	T/A;C;G	snv	2.7E-02; 4.0E-06; 1.6E-05		3
rs1025423410	TLR1			4	38798831	start lost	T/C	snv			1
rs776400293	TLR3			4	186076620	start lost	A/G	snv	4.0E-06	7.0E-06	1
rs1801394	FASTKD3 ; MTRR	0.531	0.840	5	7870860	missense variant	A/G	snv	0.47	0.45	101
rs11739136	KCNIP1 ; KCNMB1	0.827	0.200	5	170383792	missense variant	C/T	snv	9.9E-02	8.7E-02	10
rs37369	AGXT2	0.807	0.120	5	35037010	missense variant	C/T	snv	0.21	0.25	9
rs702553	PDE4D	0.882	0.160	5	60440946	intron variant	A/T	snv		0.37	6
rs2053044	ADRB2	1.000	0.040	5	148825809	5 prime UTR variant	A/G	snv		0.59	5
rs8177412	GPX3 ; LOC105378228	0.851	0.160	5	151020526	5 prime UTR variant	T/C	snv		0.15	5
rs7704116	PPP2CA	1.000	0.080	5	134216763	intron variant	C/T	snv		9.9E-02	2
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs1800629	TNF	0.472	0.920	6	31575254	upstream gene variant	G/A	snv	0.12	0.14	169
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs2070600	AGER	0.561	0.760	6	32183666	missense variant	C/T	snv	5.3E-02	3.6E-02	82