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 GENOME	Num. diseases
rs174594	FADS2	0.776	0.160	11	61852357	intron variant	C/A;T	snv		14
rs603424	PKD2L1	1.000	0.080	10	100315722	intron variant	G/A	snv	0.34	13
rs7652589		0.732	0.400	3	122170241	downstream gene variant	A/G	snv	0.60	13
rs7708392	TNIP1	0.732	0.400	5	151077924	intron variant	G/C	snv	0.44	13
rs174549	FADS2 ; FADS1	0.851	0.240	11	61803910	5 prime UTR variant	G/A	snv	0.26	12
rs10887800	LOC101929727 ; RNLS	0.790	0.280	10	88316086	intron variant	A/G;T	snv		11
rs12917707	UMOD	0.827	0.200	16	20356368	upstream gene variant	G/T	snv	0.14	11
rs12509595		1.000	0.080	4	80261400	intergenic variant	T/C	snv	0.23	10
rs13333226	UMOD	0.827	0.200	16	20354332	intron variant	A/G	snv	0.23	10
rs4819554	IL17RA	0.776	0.320	22	17084145	upstream gene variant	G/A	snv	0.84	10
rs9895661	BCAS3	0.882	0.200	17	61379228	non coding transcript exon variant	C/T	snv	0.69	10
rs2236242	SERPINA12	0.776	0.280	14	94493715	intron variant	T/A	snv	0.31	9
rs2576178	RNLS ; LIPJ	0.790	0.160	10	88583641	5 prime UTR variant	A/G	snv	0.29	9
rs4821480	MYH9	0.807	0.160	22	36299201	intron variant	G/T	snv	0.78	9
rs756322971	CASR	0.763	0.240	3	122284955	missense variant	C/A;G	snv		9
rs911119	CST3	0.807	0.120	20	23632100	non coding transcript exon variant	C/G;T	snv		9
rs16840252	CTLA4	0.776	0.480	2	203866796	upstream gene variant	C/T	snv	0.16	8
rs17173608	RARRES2	0.807	0.240	7	150339575	intron variant	T/G	snv	0.11	8
rs174541	FADS2	1.000	0.080	11	61798436	intron variant	T/C	snv	0.29	8
rs174566	FADS1 ; FADS2	0.925	0.160	11	61824890	intron variant	A/G	snv	0.34	8
rs3448	GPX1 ; RHOA	0.776	0.240	3	49359318	3 prime UTR variant	T/C	snv	0.76	8
rs3917887	CCL2	0.776	0.240	17	34255979	non coding transcript exon variant	AGCTCCTCCTTCTC/-;AGCTCCTCCTTCTCAGCTCCTCCTTCTC	delins	0.33	8
rs4293393	UMOD	0.827	0.200	16	20353266	intron variant	A/G	snv	0.20	8
rs963837	LOC101928338 ; LINC02859	0.925	0.120	11	30727543	intergenic variant	T/C	snv	0.35	8
rs11622435	LOC101928462	0.827	0.120	14	81151652	intron variant	G/A	snv	4.7E-02	7