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
rs7583877	AFF3	0.925	0.080	2	99844192	intron variant	C/T	snv		0.61	2
rs161740	CHD1	0.882	0.200	5	98869326	intron variant	C/A;T	snv			3
rs2236242	SERPINA12	0.776	0.280	14	94493715	intron variant	T/A	snv		0.31	9
rs17709344	LOC107983974	0.925	0.080	15	93608310	intron variant	G/A	snv		4.0E-02	2
rs12437854	LOC107983974	0.925	0.080	15	93598604	intron variant	T/G	snv		0.10	2
rs1049255	CYBA	0.776	0.320	16	88643329	3 prime UTR variant	C/T	snv	0.49	0.48	9
rs2576178	RNLS ; LIPJ	0.790	0.160	10	88583641	5 prime UTR variant	A/G	snv		0.29	9
rs10887800	LOC101929727 ; RNLS	0.790	0.280	10	88316086	intron variant	A/G;T	snv			11
rs1372834938	KIDINS220	0.763	0.280	2	8812465	missense variant	G/C	snv	4.2E-06		12
rs2229109	ABCB1	0.807	0.240	7	87550493	missense variant	C/A;T	snv	2.7E-02		8
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs112417755	GATA3	1.000	0.080	10	8073738	splice acceptor variant	G/C;T	snv			1
rs1749824	ZMIZ1	0.925	0.080	10	79164105	intron variant	C/A	snv		0.39	3
rs3803800	TNFSF13 ; TNFSF12-TNFSF13	0.807	0.240	17	7559652	missense variant	A/G	snv	0.70	0.64	7
rs890336	CNDP2	0.882	0.160	18	74520377	3 prime UTR variant	C/G;T	snv			3
rs17089362	CNDP2	0.882	0.160	18	74518403	non coding transcript exon variant	G/A;T	snv			3
rs777476179	ALMS1	0.851	0.280	2	73448259	frameshift variant	A/-	del		1.4E-05	5
rs370819889	ALB	0.925	0.080	4	73416353	missense variant	C/A;T	snv	8.0E-06; 9.6E-05		2
rs1162592300	ALB	0.925	0.080	4	73412045	missense variant	G/A	snv			3
rs41302867	RREB1	0.925	0.080	6	7240643	intron variant	G/A	snv	8.5E-02	8.2E-02	3
rs9379084	RREB1	0.882	0.160	6	7231610	missense variant	G/A	snv	0.11	8.9E-02	6
rs75444904	HPR ; TXNL4B	0.851	0.160	16	72061751	intron variant	A/C	snv		2.4E-02	4
rs9298190	MSC-AS1	0.925	0.080	8	71932099	intron variant	T/C	snv		0.36	2
rs5443	CDCA3 ; GNB3	0.532	0.760	12	6845711	synonymous variant	C/T	snv	0.36	0.44	106
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188