DisGeNET - a database of gene-disease associations

List of associated variants

Chronic kidney disease stage 5, C2316810

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	Num. diseases
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
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv		121
rs231775	CTLA4	0.504	0.720	2	203867991	missense variant	A/G;T	snv	0.42; 4.0E-06	115
rs1800470	TGFB1	0.515	0.840	19	41353016	missense variant	G/A;C	snv	0.55; 2.4E-04	107
rs1188383936	F2	0.524	0.760	11	46725976	missense variant	C/T	snv	8.0E-06	102
rs1267969615	ACE	0.532	0.760	17	63490960	missense variant	T/C	snv	4.0E-06	100
rs7903146	TCF7L2	0.554	0.680	10	112998590	intron variant	C/G;T	snv		93
rs1544410	VDR	0.542	0.760	12	47846052	intron variant	C/A;G;T	snv		78
rs61752717	MEFV	0.583	0.840	16	3243407	missense variant	T/A;C	snv	2.8E-04	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
rs2292832	MIR149 ; GPC1 ; LOC100130449	0.605	0.640	2	240456086	non coding transcript exon variant	T/A;C	snv	0.59	46
rs3743930	MEFV	0.611	0.720	16	3254626	missense variant	C/G;T	snv	7.1E-02	43
rs3761548	FOXP3	0.620	0.680	X	49261784	intron variant	G/A;T	snv		42
rs1232898090	PPARA	0.637	0.600	22	46198429	missense variant	G/C;T	snv	4.0E-06; 4.0E-06	40
rs4961	ADD1	0.683	0.400	4	2904980	missense variant	G/A;T	snv	1.2E-05; 0.20	27
rs17817449	FTO	0.716	0.560	16	53779455	intron variant	T/A;G	snv		21
rs2232365	FOXP3	0.716	0.480	X	49259429	intron variant	T/C	snv		16
rs1044498	ENPP1	0.752	0.360	6	131851228	missense variant	A/C;G	snv	0.19	15
rs1617640	EPO	0.742	0.520	7	100719675	upstream gene variant	C/A;G;T	snv		15
rs995922697	GPX1	0.724	0.560	3	49357413	missense variant	A/G	snv	4.1E-06	15
rs767830104	CXCR4	0.752	0.280	2	136115399	missense variant	C/G;T	snv	4.0E-06; 8.0E-06	13