DisGeNET - a database of gene-disease associations

List of associated variants

Chronic Kidney Diseases, C1561643

Source: GWASCAT ×

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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
rs1260326	GCKR	0.645	0.600	2	27508073	missense variant	T/C;G	snv	0.63; 4.0E-06	0.68	55
rs780094	GCKR	0.658	0.400	2	27518370	intron variant	T/C	snv		0.67	35
rs1047891	CPS1	0.827	0.200	2	210675783	missense variant	C/A	snv	0.30	0.33	25
rs653178	ATXN2	0.672	0.600	12	111569952	intron variant	C/T	snv		0.67	23
rs334	HBB	0.724	0.240	11	5227002	missense variant	T/A;C;G	snv	3.5E-03		19
rs1535	FADS2	0.752	0.240	11	61830500	intron variant	A/G	snv		0.31	18
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	18
rs174533	MYRF ; TMEM258	0.763	0.160	11	61781553	intron variant	G/A	snv	0.37	0.29	17
rs780093	GCKR	0.763	0.240	2	27519736	intron variant	T/C	snv		0.68	16
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	16
rs7903146	TCF7L2	0.554	0.680	10	112998590	intron variant	C/G;T	snv			16
rs174537	TMEM258 ; MYRF	0.708	0.400	11	61785208	non coding transcript exon variant	G/T	snv		0.28	14
rs174594	FADS2	0.776	0.160	11	61852357	intron variant	C/A;T	snv			13
rs738409	PNPLA3	0.557	0.720	22	43928847	missense variant	C/G	snv	0.28	0.22	11
rs603424	PKD2L1	1.000	0.080	10	100315722	intron variant	G/A	snv		0.34	10
rs102275	TMEM258	0.827	0.320	11	61790331	non coding transcript exon variant	T/C	snv		0.47	10
rs174548	FADS2 ; FADS1	0.851	0.160	11	61803876	5 prime UTR variant	C/G;T	snv			9
rs174549	FADS2 ; FADS1	0.851	0.240	11	61803910	5 prime UTR variant	G/A	snv		0.26	8
rs9895661	BCAS3	0.882	0.200	17	61379228	non coding transcript exon variant	C/T	snv		0.69	7
rs174566	FADS1 ; FADS2	0.925	0.160	11	61824890	intron variant	A/G	snv		0.34	7
rs174583	FADS2	0.807	0.320	11	61842278	intron variant	C/T	snv		0.35	7
rs2070600	AGER	0.561	0.760	6	32183666	missense variant	C/T	snv	5.3E-02	3.6E-02	6
rs2266788	APOA5 ; ZPR1	0.763	0.440	11	116789970	3 prime UTR variant	G/A	snv		0.93	6
rs174554	FADS1 ; FADS2	1.000	0.080	11	61811991	intron variant	A/G	snv	0.40	0.28	6
rs3925584	LOC101928338	1.000	0.080	11	30738788	intergenic variant	T/C	snv		0.35	6