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
rs1749824	ZMIZ1	0.925	0.080	10	79164105	intron variant	C/A	snv		0.39	3
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs1222213359	VEGFA	0.574	0.720	6	43770966	missense variant	G/A	snv			62
rs1570360	VEGFA	0.641	0.680	6	43770093	upstream gene variant	A/G	snv		0.76	38
rs1544410	VDR	0.542	0.760	12	47846052	intron variant	C/A;G;T	snv			78
rs7975232	VDR	0.576	0.760	12	47845054	intron variant	C/A	snv	0.51	0.55	56
rs12917707	UMOD	0.827	0.200	16	20356368	upstream gene variant	G/T	snv		0.14	11
rs13333226	UMOD	0.827	0.200	16	20354332	intron variant	A/G	snv		0.23	10
rs183962941	UMOD	0.925	0.080	16	20343125	intron variant	G/A	snv		1.1E-02	2
rs7708392	TNIP1	0.732	0.400	5	151077924	intron variant	G/C	snv		0.44	13
rs3803800	TNFSF13 ; TNFSF12-TNFSF13	0.807	0.240	17	7559652	missense variant	A/G	snv	0.70	0.64	7
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
rs5743708	TLR2	0.525	0.800	4	153705165	missense variant	G/A	snv	1.7E-02	1.8E-02	98
rs121917864	TLR2	0.645	0.520	4	153704936	missense variant	C/T	snv	8.8E-05	9.8E-05	31
rs1800470	TGFB1	0.515	0.840	19	41353016	missense variant	G/A;C	snv	0.55; 2.4E-04		107
rs7903146	TCF7L2	0.554	0.680	10	112998590	intron variant	C/G;T	snv			93
rs1452199941	TBC1D9	0.827	0.160	4	140670787	missense variant	T/C	snv		7.0E-06	5
rs1800454	TAP2	0.851	0.280	6	32832635	missense variant	C/T	snv	0.14	0.14	4
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs11643718	SLC12A3	0.807	0.240	16	56899607	missense variant	G/A	snv	0.11	8.4E-02	10
rs2838302	SIK1	0.925	0.080	21	43419273	intron variant	A/G	snv	1.0E-01		2
rs2236242	SERPINA12	0.776	0.280	14	94493715	intron variant	T/A	snv		0.31	9
rs2229569	SELL ; C1orf112	0.790	0.360	1	169704697	missense variant	G/A;T	snv	0.21; 3.2E-05		8
rs2802723	SDCCAG8	0.925	0.080	1	243335010	intron variant	T/C;G	snv			2