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
rs530391015	INF2	0.882	0.080	14	104703445	stop gained	G/A;C;T	snv	4.0E-06		5
rs17319721	SHROOM3	0.925	0.080	4	76447694	intron variant	G/A	snv		0.34	5
rs118203478	TSC1	0.882	0.200	9	132911492	frameshift variant	-/A;AA	delins			5
rs1555487316	UMOD	0.882	0.240	16	20348247	missense variant	A/C	snv			5
rs867394500	ACE	0.851	0.080	17	63477301	missense variant	G/T	snv			4
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
rs281874657	COL4A5	0.925	0.160	X	108586717	stop gained	C/T	snv			3
rs7222094	MAP3K14	0.882	0.120	17	45290287	intron variant	T/C	snv		0.54	3
rs1553948516	SCARB2	0.925	0.120	4	76181009	frameshift variant	-/G	delins			3
rs1382048442	ABCC2	0.925	0.160	10	99797141	missense variant	T/C	snv	4.0E-06		2
rs538166970	ACE	0.925	0.080	17	63496920	missense variant	G/A;C	snv	1.6E-05; 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
rs1567202189	PKD1	1.000	0.080	16	2111276	inframe insertion	-/GTG	ins			2
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