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
rs373909351	IQCB1	0.882	0.200	3	121772659	stop gained	G/A;C	snv	2.8E-05; 4.0E-06		6
rs7652589		0.732	0.400	3	122170241	downstream gene variant	A/G	snv		0.60	13
rs1801725	CASR	0.633	0.600	3	122284910	missense variant	G/T	snv	0.13	0.11	39
rs1042636	CASR	0.672	0.360	3	122284922	missense variant	A/G	snv	0.15	9.0E-02	23
rs756322971	CASR	0.763	0.240	3	122284955	missense variant	C/A;G	snv			9
rs1801726	CASR	0.732	0.280	3	122284985	missense variant	G/C	snv	0.95	0.92	13
rs5370	EDN1	0.630	0.520	6	12296022	missense variant	G/T	snv	0.23	0.21	37
rs4714384	EDN1	0.925	0.080	6	12297620	downstream gene variant	T/C	snv		0.45	2
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	131
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv			121
rs10808565	PVT1	0.925	0.080	8	127995166	non coding transcript exon variant	C/T	snv		0.31	2
rs13447075	PVT1	0.882	0.120	8	127998344	non coding transcript exon variant	C/A	snv			4
rs2720709	PVT1	0.882	0.160	8	128046110	intron variant	G/A;C	snv			3
rs2648862	PVT1 ; MIR1207	0.882	0.120	8	128049539	non coding transcript exon variant	C/A	snv		2.9E-02	4
rs1044498	ENPP1	0.752	0.360	6	131851228	missense variant	A/C;G	snv	0.19		15
rs767830104	CXCR4	0.752	0.280	2	136115399	missense variant	C/G;T	snv	4.0E-06; 8.0E-06		13
rs1452199941	TBC1D9	0.827	0.160	4	140670787	missense variant	T/C	snv		7.0E-06	5
rs5186	AGTR1	0.630	0.560	3	148742201	3 prime UTR variant	A/C	snv	0.23	0.21	38
rs1042713	ADRB2	0.576	0.800	5	148826877	missense variant	G/A	snv	0.42	0.43	63
rs4897081		0.882	0.160	6	149115402	upstream gene variant	G/A;T	snv			3
rs12197043		0.882	0.160	6	149130141	regulatory region variant	A/G	snv		0.37	3
rs17173608	RARRES2	0.807	0.240	7	150339575	intron variant	T/G	snv		0.11	8
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs7830	NOS3 ; ATG9B	0.763	0.320	7	151012483	3 prime UTR variant	G/T	snv	0.38	0.32	11
rs7708392	TNIP1	0.732	0.400	5	151077924	intron variant	G/C	snv		0.44	13