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
rs1128503	ABCB1	0.564	0.760	7	87550285	synonymous variant	A/G	snv	0.54	0.63	64
rs118203478	TSC1	0.882	0.200	9	132911492	frameshift variant	-/A;AA	delins			5
rs12026	PON2	0.827	0.240	7	95411704	missense variant	G/C	snv	0.27	0.27	6
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs121918079	TTR	0.790	0.280	18	31595143	missense variant	T/C	snv			10
rs1267969615	ACE	0.532	0.760	17	63490960	missense variant	T/C	snv	4.0E-06		100
rs12704795	PON2	1.000	0.080	7	95424695	intron variant	T/G	snv		0.34	1
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
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
rs1553948516	SCARB2	0.925	0.120	4	76181009	frameshift variant	-/G	delins			3
rs1555487316	UMOD	0.882	0.240	16	20348247	missense variant	A/C	snv			5
rs1567202189	PKD1	1.000	0.080	16	2111276	inframe insertion	-/GTG	ins			2
rs1569492161	COL4A5	0.882	0.280	X	108586729	missense variant	G/C	snv			4
rs1617640	EPO	0.742	0.520	7	100719675	upstream gene variant	C/A;G;T	snv			15
rs17319721	SHROOM3	0.925	0.080	4	76447694	intron variant	G/A	snv		0.34	5
rs1800470	TGFB1	0.515	0.840	19	41353016	missense variant	G/A;C	snv	0.55; 2.4E-04		107
rs1800471	TGFB1	0.597	0.840	19	41352971	missense variant	C/G;T	snv	5.6E-02		48
rs188942711	COL4A3 ; MFF-DT	0.763	0.200	2	227253336	missense variant	G/A;T	snv	2.8E-05; 4.0E-06		9
rs202047589	HOGA1	0.925	0.160	10	97599780	missense variant	C/T	snv	4.4E-05	7.0E-05	2
rs281874657	COL4A5	0.925	0.160	X	108586717	stop gained	C/T	snv			3
rs28933979	TTR	0.587	0.600	18	31592974	missense variant	G/A;C	snv	1.0E-04		70
rs34557412	TNFRSF13B	0.763	0.240	17	16948873	missense variant	A/G	snv	3.5E-03	3.9E-03	15
rs367825197	PODXL	0.925	0.080	7	131509412	stop gained	G/A	snv	4.0E-06		2