DisGeNET - a database of gene-disease associations

List of associated variants

Chronic Kidney Diseases, C1561643

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
rs104894833	RPL36A-HNRNPH2 ; GLA	0.776	0.280	X	101403984	missense variant	C/G	snv	1.2E-04	1.9E-05	11
rs1059703	IRAK1	0.851	0.280	X	154013378	missense variant	G/A	snv	0.67		6
rs1556446493	COL4A5			X	108668328	missense variant	G/T	snv			3
rs4680	COMT ; MIR4761	0.442	0.920	22	19963748	missense variant	G/A	snv	0.46	0.44	249
rs738409	PNPLA3	0.557	0.720	22	43928847	missense variant	C/G	snv	0.28	0.22	88
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
rs73885319	APOL1	0.851	0.120	22	36265860	missense variant	A/G	snv	1.6E-02	6.6E-02	6
rs60910145	APOL1	0.851	0.120	22	36265988	missense variant	T/G	snv	1.6E-02	6.6E-02	5
rs12107	MYH9	1.000	0.040	22	36281936	3 prime UTR variant	G/A;T	snv			3
rs117935223	PRODH	1.000	0.080	22	18923820	non coding transcript exon variant	C/A	snv			2
rs76974938	CFAP298-TCP10L ; CFAP298	1.000	0.080	21	32609946	missense variant	C/T	snv	1.3E-04	5.5E-04	3
rs17577	SLC12A5-AS1 ; MMP9	0.649	0.520	20	46014472	missense variant	G/A;C	snv	0.16		31
rs911119	CST3	0.807	0.120	20	23632100	non coding transcript exon variant	C/G;T	snv			9
rs13038305	CST3	0.925	0.080	20	23629625	intron variant	C/T	snv		0.21	5
rs6066043	SLC13A3	1.000	0.080	20	46659814	intron variant	G/A;T	snv			3
rs6022039	LOC105372666	1.000	0.080	20	52676385	intron variant	C/T	snv		6.7E-02	2
rs686548	LINC01723	1.000	0.080	20	12992873	intron variant	A/T	snv		0.70	2
rs1800471	TGFB1	0.597	0.840	19	41352971	missense variant	C/G;T	snv	5.6E-02		48
rs405509	APOE	0.667	0.480	19	44905579	upstream gene variant	T/G	snv		0.58	30
rs157580	TOMM40	0.882	0.160	19	44892009	intron variant	G/A	snv		0.69	14
rs2569512	ILF3	0.925	0.080	19	10679486	intron variant	T/C	snv		0.76	5
rs12460876	SLC7A9	1.000	0.080	19	32865985	intron variant	T/C	snv		0.36	4
rs7252778	SLC7A9	1.000	0.080	19	32869463	intron variant	C/A;T	snv			3
rs201631095	CERS4	1.000	0.080	19	8208084	intron variant	AAA/-;A;AA;AAAA;AAAAA;AAAAAA	delins			2