DisGeNET - a database of gene-disease associations

List of associated variants

NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE, C1868672

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
rs1553315173	NPHS2	0.925	0.080	1	179564795	splice acceptor variant	T/C	snv			2
rs1553316575	NPHS2	0.925	0.080	1	179575616	frameshift variant	C/-	del			2
rs1553316611	NPHS2	0.925	0.080	1	179575698	frameshift variant	-/C	delins			2
rs1553316648	NPHS2	0.925	0.080	1	179575763	frameshift variant	T/CC	delins			2
rs1558355124	NPHS2	0.925	0.080	1	179575698	frameshift variant	T/-	del			2
rs528833893	NPHS2	0.925	0.080	1	179559746	frameshift variant	A/-;AA	delins			2
rs74315345	NPHS2	0.925	0.080	1	179575591	missense variant	C/A;G;T	snv			2
rs74315346	NPHS2	0.925	0.080	1	179559734	missense variant	T/A;C	snv			2
rs74315347	NPHS2	0.925	0.080	1	179557227	missense variant	C/T	snv	1.2E-05	7.0E-06	2
rs755972674	NPHS2	0.925	0.080	1	179561355	stop gained	G/A	snv	8.0E-06		2
rs762631237	NPHS2	0.925	0.080	1	179564689	splice donor variant	C/T	snv	8.0E-06		2
rs778055996	NPHS2	0.925	0.080	1	179557122	stop gained	G/A;C	snv	1.2E-05; 8.4E-05		2
rs786204583	NPHS2	0.925	0.080	1	179559711	missense variant	G/A	snv			2
rs786204708	NPHS2	0.925	0.080	1	179561287	splice donor variant	A/T	snv			2
rs869312746	NPHS2	0.925	0.080	1	179575750	stop gained	G/A	snv			2
rs1031744496	NPHS2 ; AXDND1	0.925	0.080	1	179551453	splice acceptor variant	T/G	snv			2
rs1057516523	NPHS2 ; AXDND1	0.925	0.080	1	179552682	splice acceptor variant	C/T	snv			2
rs1057516900	NPHS2 ; AXDND1	0.925	0.080	1	179551262	frameshift variant	-/G	delins	4.0E-06		2
rs1057517164	NPHS2 ; AXDND1	0.925	0.080	1	179552617	stop gained	G/A	snv			2
rs1490010141	NPHS2 ; AXDND1	0.925	0.080	1	179552614	missense variant	C/T	snv	4.0E-06		2
rs199506378	NPHS2 ; AXDND1	0.925	0.080	1	179551435	missense variant	G/A;T	snv	4.0E-06		2
rs74315348	NPHS2 ; AXDND1	0.925	0.080	1	179552605	missense variant	G/A;C	snv	2.0E-05; 4.0E-06		2
rs763818901	NPHS2 ; AXDND1	0.925	0.080	1	179551361	stop gained	G/A;C	snv	4.0E-06		2
rs775170915	NPHS2 ; AXDND1	0.925	0.080	1	179551377	frameshift variant	A/-	del	1.2E-05		2
rs776016942	NPHS2 ; AXDND1	0.925	0.080	1	179551452	splice acceptor variant	C/G;T	snv	4.0E-06; 4.0E-06		2