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
rs4730751	CAV1	0.882	0.120	7	116540796	intron variant	C/A	snv		0.22	4
rs379489	CFH	0.851	0.200	1	196724321	intron variant	A/G	snv		0.65	4
rs515299	CFH	0.925	0.080	1	196737547	missense variant	G/A;C;T	snv	4.8E-05; 1.7E-02		4
rs7588550	ERBB4	0.851	0.160	2	212304043	intron variant	G/A	snv		0.96	4
rs730497	GCK ; LOC105375257	0.882	0.160	7	44184122	intron variant	G/A	snv		0.17	4
rs75444904	HPR ; TXNL4B	0.851	0.160	16	72061751	intron variant	A/C	snv		2.4E-02	4
rs13447075	PVT1	0.882	0.120	8	127998344	non coding transcript exon variant	C/A	snv			4
rs2648862	PVT1 ; MIR1207	0.882	0.120	8	128049539	non coding transcript exon variant	C/A	snv		2.9E-02	4
rs1800454	TAP2	0.851	0.280	6	32832635	missense variant	C/T	snv	0.14	0.14	4
rs777476179	ALMS1	0.851	0.280	2	73448259	frameshift variant	A/-	del		1.4E-05	5
rs60910145	APOL1	0.851	0.120	22	36265988	missense variant	T/G	snv	1.6E-02	6.6E-02	5
rs11089788	MYH9	0.851	0.120	22	36355056	intron variant	C/A	snv		0.46	5
rs753350907	PAX2	0.827	0.080	10	100806499	missense variant	G/A;C;T	snv	4.0E-06; 4.0E-06		5
rs10951982	RAC1	0.851	0.160	7	6382925	intron variant	G/A;T	snv			5
rs1452199941	TBC1D9	0.827	0.160	4	140670787	missense variant	T/C	snv		7.0E-06	5
rs12513649		0.851	0.160	5	173045049	regulatory region variant	C/G;T	snv			6
rs73885319	APOL1	0.851	0.120	22	36265860	missense variant	A/G	snv	1.6E-02	6.6E-02	6
rs373863828	CREBRF	0.851	0.160	5	173108771	missense variant	G/A	snv	4.0E-05	8.4E-05	6
rs373909351	IQCB1	0.882	0.200	3	121772659	stop gained	G/A;C	snv	2.8E-05; 4.0E-06		6
rs398123538	IQCB1	0.882	0.200	3	121772605	frameshift variant	TG/-	delins	8.0E-05	7.0E-05	6
rs143810759	LIG4	0.851	0.280	13	108210371	missense variant	C/T	snv	1.6E-04	2.1E-04	6
rs9379084	RREB1	0.882	0.160	6	7231610	missense variant	G/A	snv	0.11	8.9E-02	6
rs121908525	AGXT	0.790	0.160	2	240875159	missense variant	T/C	snv	4.4E-05	5.6E-05	7
rs3957357	GSTA1	0.807	0.280	6	52803889	upstream gene variant	A/G	snv		0.63	7
rs452204	IL1RN	0.807	0.200	2	113131484	intron variant	G/A	snv		0.45	7