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
rs2070600	AGER	0.561	0.760	6	32183666	missense variant	C/T	snv	5.3E-02	3.6E-02	82
rs1544410	VDR	0.542	0.760	12	47846052	intron variant	C/A;G;T	snv			78
rs1800469	B9D2 ; TGFB1	0.547	0.760	19	41354391	intron variant	A/G	snv		0.69	78
rs7975232	VDR	0.576	0.760	12	47845054	intron variant	C/A	snv	0.51	0.55	56
rs231775	CTLA4	0.504	0.720	2	203867991	missense variant	A/G;T	snv	0.42; 4.0E-06		115
rs1061170	CFH	0.561	0.720	1	196690107	missense variant	C/T	snv	0.68	0.64	72
rs1222213359	VEGFA	0.574	0.720	6	43770966	missense variant	G/A	snv			62
rs28362491	LOC105377621 ; NFKB1	0.592	0.720	4	102500998	non coding transcript exon variant	ATTG/-	delins			56
rs1416580204	MOK	0.608	0.720	14	102250837	missense variant	C/T	snv	4.0E-06	7.0E-06	49
rs3732378	CX3CR1	0.620	0.720	3	39265671	missense variant	G/A	snv	0.14	0.12	48
rs3087243	CTLA4	0.623	0.720	2	203874196	downstream gene variant	G/A	snv		0.37	44
rs3743930	MEFV	0.611	0.720	16	3254626	missense variant	C/G;T	snv	7.1E-02		43
rs7903146	TCF7L2	0.554	0.680	10	112998590	intron variant	C/G;T	snv			93
rs1801275	IL4R	0.581	0.680	16	27363079	missense variant	A/G	snv	0.25	0.36	58
rs2231142	ABCG2	0.583	0.680	4	88131171	missense variant	G/C;T	snv	4.0E-06; 0.12		56
rs3761548	FOXP3	0.620	0.680	X	49261784	intron variant	G/A;T	snv			42
rs5742909	CTLA4	0.614	0.680	2	203867624	upstream gene variant	C/T	snv		6.7E-02	40
rs1570360	VEGFA	0.641	0.680	6	43770093	upstream gene variant	A/G	snv		0.76	38
rs3732379	CX3CR1	0.637	0.680	3	39265765	missense variant	C/T	snv	0.22	0.22	38
rs2292832	MIR149 ; GPC1 ; LOC100130449	0.605	0.640	2	240456086	non coding transcript exon variant	T/A;C	snv	0.59		46
rs1260326	GCKR	0.645	0.600	2	27508073	missense variant	T/C;G	snv	0.63; 4.0E-06	0.68	81
rs833061	VEGFA	0.605	0.600	6	43769749	upstream gene variant	C/G;T	snv			42
rs653178	ATXN2	0.672	0.600	12	111569952	intron variant	C/T	snv		0.67	41
rs1232898090	PPARA	0.637	0.600	22	46198429	missense variant	G/C;T	snv	4.0E-06; 4.0E-06		40
rs1801725	CASR	0.633	0.600	3	122284910	missense variant	G/T	snv	0.13	0.11	39