DisGeNET - a database of gene-disease associations

List of associated variants

Renal Insufficiency, C1565489

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
rs12704795	PON2	1.000	0.080	7	95424695	intron variant	T/G	snv		0.34	1
rs1267969615	ACE	0.532	0.760	17	63490960	missense variant	T/C	snv	4.0E-06		100
rs4149056	SLCO1B1	0.633	0.480	12	21178615	missense variant	T/C	snv	0.13	0.12	45
rs121918079	TTR	0.790	0.280	18	31595143	missense variant	T/C	snv			10
rs7222094	MAP3K14	0.882	0.120	17	45290287	intron variant	T/C	snv		0.54	3
rs1382048442	ABCC2	0.925	0.160	10	99797141	missense variant	T/C	snv	4.0E-06		2
rs137852834	CEP290	0.763	0.280	12	88083936	stop gained	T/A	snv	5.5E-05	9.1E-05	13
rs696217	GHRL ; GHRLOS	0.662	0.640	3	10289773	missense variant	G/T	snv	8.8E-02	7.1E-02	32
rs867394500	ACE	0.851	0.080	17	63477301	missense variant	G/T	snv			4
rs7493	PON2	0.677	0.440	7	95405463	missense variant	G/C	snv	0.27	0.27	24
rs12026	PON2	0.827	0.240	7	95411704	missense variant	G/C	snv	0.27	0.27	6
rs1569492161	COL4A5	0.882	0.280	X	108586729	missense variant	G/C	snv			4
rs7456421	HIPK2	0.882	0.120	7	139715976	synonymous variant	G/C	snv	0.27	0.37	4
rs777919630	CBS	0.623	0.680	21	43062358	missense variant	G/A;T	snv	8.0E-06; 4.0E-06		40
rs188942711	COL4A3 ; MFF-DT	0.763	0.200	2	227253336	missense variant	G/A;T	snv	2.8E-05; 4.0E-06		9
rs138207257	HOGA1	0.925	0.160	10	97611535	missense variant	G/A;T	snv	2.0E-05; 1.1E-04		2
rs530391015	INF2	0.882	0.080	14	104703445	stop gained	G/A;C;T	snv	4.0E-06		5
rs1800470	TGFB1	0.515	0.840	19	41353016	missense variant	G/A;C	snv	0.55; 2.4E-04		107
rs28933979	TTR	0.587	0.600	18	31592974	missense variant	G/A;C	snv	1.0E-04		70
rs538166970	ACE	0.925	0.080	17	63496920	missense variant	G/A;C	snv	1.6E-05; 4.0E-06		2
rs368087026	SLC19A1	0.637	0.520	21	45530890	missense variant	G/A	snv			33
rs17319721	SHROOM3	0.925	0.080	4	76447694	intron variant	G/A	snv		0.34	5
rs74315289	BSND	0.827	0.280	1	54999325	missense variant	G/A	snv	1.0E-04	1.5E-04	5
rs367825197	PODXL	0.925	0.080	7	131509412	stop gained	G/A	snv	4.0E-06		2
rs61747728	NPHS2	0.701	0.240	1	179557079	missense variant	C/T	snv	3.0E-02	2.8E-02	20