DisGeNET - a database of gene-disease associations

List of associated variants

Idiopathic Nephrotic Syndrome, C3496337

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
rs1057516747	NPHS2	0.925	0.080	1	179575722	frameshift variant	-/AGCCC	delins		7.0E-06	2
rs1320543506	NPHS2	0.925	0.080	1	179575760	frameshift variant	-/C	delins			2
rs1553316611	NPHS2	0.925	0.080	1	179575698	frameshift variant	-/C	delins			2
rs1057516900	NPHS2 ; AXDND1	0.925	0.080	1	179551262	frameshift variant	-/G	delins	4.0E-06		2
rs1057516880	NPHS2	0.925	0.080	1	179575769	frameshift variant	-/TA	ins			2
rs775170915	NPHS2 ; AXDND1	0.925	0.080	1	179551377	frameshift variant	A/-	del	1.2E-05		2
rs528833893	NPHS2	0.925	0.080	1	179559746	frameshift variant	A/-;AA	delins			2
rs1345260812	NPHS2	1.000	0.080	1	179561324	missense variant	A/C	snv		7.0E-06	1
rs1801274	FCGR2A	0.597	0.800	1	161509955	missense variant	A/C;G	snv	4.0E-06; 0.48		46
rs2032582	ABCB1	0.538	0.800	7	87531302	missense variant	A/C;T	snv	0.54; 3.8E-02		97
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1128503	ABCB1	0.564	0.760	7	87550285	synonymous variant	A/G	snv	0.54	0.63	64
rs1212702104	NPHS2	0.925	0.080	1	179557025	splice donor variant	A/G	snv			2
rs12240233	NPHS2	1.000	0.080	1	179561315	missense variant	A/G	snv			1
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs231775	CTLA4	0.504	0.720	2	203867991	missense variant	A/G;T	snv	0.42; 4.0E-06		115
rs747126003	IL6-AS1 ; IL6	0.689	0.400	7	22728790	missense variant	A/G;T	snv	4.0E-06		18
rs775006954	AXDND1 ; NPHS2	0.925	0.080	1	179554491	missense variant	A/T	snv	1.6E-05	1.0E-04	2
rs786204708	NPHS2	0.925	0.080	1	179561287	splice donor variant	A/T	snv			2
rs967339926	NPHS2 ; AXDND1	0.925	0.080	1	179552601	splice donor variant	A/T	snv		1.4E-05	2
rs1272948499	NPHS2	0.925	0.080	1	179575709	frameshift variant	C/-	delins		1.4E-05	3
rs1553316575	NPHS2	0.925	0.080	1	179575616	frameshift variant	C/-	del			2
rs748812981	NPHS2	0.851	0.080	1	179557051	missense variant	C/A	snv	8.0E-06; 4.0E-06	2.8E-05	4
rs1291398331	NPHS2	0.925	0.080	1	179557231	splice acceptor variant	C/A	snv		7.0E-06	2
rs750332447	NPHS2	1.000	0.080	1	179564703	missense variant	C/A;G	snv	4.0E-06; 2.4E-05		1