DisGeNET - a database of gene-disease associations

List of associated variants

Kidney Failure, Chronic, C0022661

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
rs3834458	FADS1 ; FADS2	0.807	0.200	11	61827449	intron variant	T/-	del		0.28	7
rs28362491	LOC105377621 ; NFKB1	0.592	0.720	4	102500998	non coding transcript exon variant	ATTG/-	delins			56
rs3917887	CCL2	0.776	0.240	17	34255979	non coding transcript exon variant	AGCTCCTCCTTCTC/-;AGCTCCTCCTTCTCAGCTCCTCCTTCTC	delins		0.33	8
rs112329286	SYNE2	1.000	0.080	14	63773159	intron variant	-/ATTT	delins		0.24	4
rs59834205	SLC2A9	0.882	0.200	4	9959396	intron variant	-/GA	delins		1.1E-04	3
rs11320420	MYRF ; TMEM258	1.000	0.080	11	61774535	intron variant	AAAAA/-;AAA;AAAA;AAAAAA	delins		0.30	2
rs142864856		1.000	0.080	2	151100757	intergenic variant	CA/-;CACA;CACACA;CACACACA	delins			2
rs16347	IL1A	0.925	0.080	2	112774138	3 prime UTR variant	-/TGAA	delins		0.70	2
rs201631095	CERS4	1.000	0.080	19	8208084	intron variant	AAA/-;A;AA;AAAA;AAAAA;AAAAAA	delins			2
rs35473591	FADS2 ; FADS1	1.000	0.080	11	61818856	intron variant	-/T	delins		0.28	2
rs373971520	GNG7	0.925	0.080	19	2568808	intron variant	CA/-;CACA	delins			2
rs57668028	FADS1 ; FADS2	1.000	0.080	11	61824524	intron variant	AA/-;AAA;AAAA	delins		7.5E-03	2
rs5792235	FADS2 ; FADS1	1.000	0.080	11	61828851	intron variant	A/-	delins		0.30	2
rs138873021	ADCY8	1.000	0.080	8	130951170	intron variant	AGA/-	delins		0.68	1
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134