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	AF GENOME	Num. diseases
rs1617640	EPO	0.742	0.520	7	100719675	upstream gene variant	C/A;G;T	snv			15
rs753350907	PAX2	0.827	0.080	10	100806499	missense variant	G/A;C;T	snv	4.0E-06; 4.0E-06		5
rs28935197	GLA ; RPL36A-HNRNPH2	0.776	0.280	X	101398942	missense variant	T/C	snv	5.5E-06		10
rs104894833	RPL36A-HNRNPH2 ; GLA	0.776	0.280	X	101403984	missense variant	C/G	snv	1.2E-04	1.9E-05	11
rs1416580204	MOK	0.608	0.720	14	102250837	missense variant	C/T	snv	4.0E-06	7.0E-06	49
rs28362491	LOC105377621 ; NFKB1	0.592	0.720	4	102500998	non coding transcript exon variant	ATTG/-	delins			56
rs5498	ICAM4 ; ICAM1	0.531	0.760	19	10285007	missense variant	A/G	snv	0.44	0.37	99
rs267607183	INF2	0.882	0.080	14	104703440	missense variant	G/A	snv			3
rs77113398		0.925	0.080	13	106451558	intergenic variant	G/A	snv		6.0E-03	2
rs7490924	EFNB2	0.925	0.080	13	106519396	non coding transcript exon variant	A/G	snv		0.51	2
rs2391335	EFNB2	0.925	0.080	13	106519637	non coding transcript exon variant	T/C;G	snv		0.50	2
rs143810759	LIG4	0.851	0.280	13	108210371	missense variant	C/T	snv	1.6E-04	2.1E-04	6
rs281874762	COL4A5	0.882	0.160	X	108578114	stop gained	G/A;T	snv	5.5E-06		3
rs281874682	COL4A5	0.925	0.080	X	108598805	missense variant	C/A;T	snv	5.5E-06		2
rs16347	IL1A	0.925	0.080	2	112774138	3 prime UTR variant	-/TGAA	delins		0.70	2
rs1516792	IL1A	0.925	0.080	2	112778356	intron variant	G/A	snv			2
rs7903146	TCF7L2	0.554	0.680	10	112998590	intron variant	C/G;T	snv			93
rs452204	IL1RN	0.807	0.200	2	113131484	intron variant	G/A	snv		0.45	7
rs6280	DRD3	0.602	0.520	3	114171968	missense variant	C/T	snv	0.63	0.54	57
rs4730751	CAV1	0.882	0.120	7	116540796	intron variant	C/A	snv		0.22	4
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs398123538	IQCB1	0.882	0.200	3	121772605	frameshift variant	TG/-	delins	8.0E-05	7.0E-05	6