DisGeNET - a database of gene-disease associations

List of associated variants

Chronic Kidney Diseases, C1561643

Source: GWASDB ×

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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	25
rs780094	GCKR	0.658	0.400	2	27518370	intron variant	T/C	snv		0.67	24
rs653178	ATXN2	0.672	0.600	12	111569952	intron variant	C/T	snv		0.67	17
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	14
rs780093	GCKR	0.763	0.240	2	27519736	intron variant	T/C	snv		0.68	13
rs157580	TOMM40	0.882	0.160	19	44892009	intron variant	G/A	snv		0.69	11
rs1535	FADS2	0.752	0.240	11	61830500	intron variant	A/G	snv		0.31	10
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	10
rs102275	TMEM258	0.827	0.320	11	61790331	non coding transcript exon variant	T/C	snv		0.47	10
rs174576	FADS2	0.851	0.200	11	61836038	intron variant	C/A;T	snv			9
rs174548	FADS2 ; FADS1	0.851	0.160	11	61803876	5 prime UTR variant	C/G;T	snv			9
rs405509	APOE	0.667	0.480	19	44905579	upstream gene variant	T/G	snv		0.58	8
rs1047891	CPS1	0.827	0.200	2	210675783	missense variant	C/A	snv	0.30	0.33	8
rs7903146	TCF7L2	0.554	0.680	10	112998590	intron variant	C/G;T	snv			8
rs2266788	APOA5 ; ZPR1	0.763	0.440	11	116789970	3 prime UTR variant	G/A	snv		0.93	7
rs3782886	BRAP	0.724	0.480	12	111672685	synonymous variant	T/C	snv	1.9E-02	5.9E-03	7
rs662799	APOA5	0.689	0.480	11	116792991	upstream gene variant	G/A	snv		0.90	6
rs174583	FADS2	0.807	0.320	11	61842278	intron variant	C/T	snv		0.35	5
rs17817449	FTO	0.716	0.560	16	53779455	intron variant	T/A;G	snv			5
rs738409	PNPLA3	0.557	0.720	22	43928847	missense variant	C/G	snv	0.28	0.22	5
rs174537	TMEM258 ; MYRF	0.708	0.400	11	61785208	non coding transcript exon variant	G/T	snv		0.28	5
rs2070600	AGER	0.561	0.760	6	32183666	missense variant	C/T	snv	5.3E-02	3.6E-02	4
rs708272	CETP	0.708	0.440	16	56962376	intron variant	G/A	snv	0.42	0.38	4
rs174541	FADS2	1.000	0.080	11	61798436	intron variant	T/C	snv		0.29	4
rs881858	LOC105375069 ; LOC107986598	0.882	0.200	6	43838872	intron variant	G/A;C	snv			4