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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs61747728	NPHS2	0.701	0.240	1	179557079	missense variant	C/T	snv	3.0E-02	2.8E-02	20
rs74315289	BSND	0.827	0.280	1	54999325	missense variant	G/A	snv	1.0E-04	1.5E-04	5
rs188942711	COL4A3 ; MFF-DT	0.763	0.200	2	227253336	missense variant	G/A;T	snv	2.8E-05; 4.0E-06		9
rs7582694	STAT4	0.763	0.400	2	191105394	intron variant	C/G	snv		0.77	9
rs696217	GHRL ; GHRLOS	0.662	0.640	3	10289773	missense variant	G/T	snv	8.8E-02	7.1E-02	32
rs17319721	SHROOM3	0.925	0.080	4	76447694	intron variant	G/A	snv		0.34	5
rs1553948516	SCARB2	0.925	0.120	4	76181009	frameshift variant	-/G	delins			3
rs1128503	ABCB1	0.564	0.760	7	87550285	synonymous variant	A/G	snv	0.54	0.63	64
rs7493	PON2	0.677	0.440	7	95405463	missense variant	G/C	snv	0.27	0.27	24
rs1617640	EPO	0.742	0.520	7	100719675	upstream gene variant	C/A;G;T	snv			15
rs12026	PON2	0.827	0.240	7	95411704	missense variant	G/C	snv	0.27	0.27	6
rs7456421	HIPK2	0.882	0.120	7	139715976	synonymous variant	G/C	snv	0.27	0.37	4
rs367825197	PODXL	0.925	0.080	7	131509412	stop gained	G/A	snv	4.0E-06		2
rs12704795	PON2	1.000	0.080	7	95424695	intron variant	T/G	snv		0.34	1
rs118203478	TSC1	0.882	0.200	9	132911492	frameshift variant	-/A;AA	delins			5
rs1382048442	ABCC2	0.925	0.160	10	99797141	missense variant	T/C	snv	4.0E-06		2
rs138207257	HOGA1	0.925	0.160	10	97611535	missense variant	G/A;T	snv	2.0E-05; 1.1E-04		2
rs202047589	HOGA1	0.925	0.160	10	97599780	missense variant	C/T	snv	4.4E-05	7.0E-05	2
rs4149056	SLCO1B1	0.633	0.480	12	21178615	missense variant	T/C	snv	0.13	0.12	45
rs137852832	CEP290	0.716	0.280	12	88077263	stop gained	C/A	snv	9.5E-05	6.3E-05	17
rs137852834	CEP290	0.763	0.280	12	88083936	stop gained	T/A	snv	5.5E-05	9.1E-05	13
rs771454167	CEP290	0.827	0.240	12	88062772	frameshift variant	C/-	del	4.7E-05; 5.2E-06	2.1E-05	6
rs530391015	INF2	0.882	0.080	14	104703445	stop gained	G/A;C;T	snv	4.0E-06		5