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
rs1057516900	NPHS2 ; AXDND1	0.925	0.080	1	179551262	frameshift variant	-/G	delins	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
rs199506378	NPHS2 ; AXDND1	0.925	0.080	1	179551435	missense variant	G/A;T	snv	4.0E-06		2
rs776016942	NPHS2 ; AXDND1	0.925	0.080	1	179551452	splice acceptor variant	C/G;T	snv	4.0E-06; 4.0E-06		2
rs1031744496	NPHS2 ; AXDND1	0.925	0.080	1	179551453	splice acceptor variant	T/G	snv			2
rs967339926	NPHS2 ; AXDND1	0.925	0.080	1	179552601	splice donor variant	A/T	snv		1.4E-05	2
rs1553312833	AXDND1 ; NPHS2	0.925	0.080	1	179552602	splice donor variant	C/T	snv			2
rs74315348	NPHS2 ; AXDND1	0.925	0.080	1	179552605	missense variant	G/A;C	snv	2.0E-05; 4.0E-06		2
rs200482683	AXDND1 ; NPHS2	0.827	0.120	1	179552608	missense variant	C/T	snv	1.1E-04	1.1E-04	6
rs1490010141	NPHS2 ; AXDND1	0.925	0.080	1	179552614	missense variant	C/T	snv	4.0E-06		2
rs1057517164	NPHS2 ; AXDND1	0.925	0.080	1	179552617	stop gained	G/A	snv			2
rs749740335	NPHS2 ; AXDND1	0.925	0.080	1	179552620	frameshift variant	TT/-	delins	6.8E-05	9.1E-05	3
rs869312747	NPHS2 ; AXDND1	0.925	0.080	1	179552664	missense variant	G/A	snv			2
rs1057516523	NPHS2 ; AXDND1	0.925	0.080	1	179552682	splice acceptor variant	C/T	snv			2
rs775006954	AXDND1 ; NPHS2	0.925	0.080	1	179554491	missense variant	A/T	snv	1.6E-05	1.0E-04	2
rs1212702104	NPHS2	0.925	0.080	1	179557025	splice donor variant	A/G	snv			2
rs748812981	NPHS2	0.851	0.080	1	179557051	missense variant	C/A	snv	8.0E-06; 4.0E-06	2.8E-05	4
rs61747728	NPHS2	0.701	0.240	1	179557079	missense variant	C/T	snv	3.0E-02	2.8E-02	20
rs1057516414	NPHS2	0.925	0.080	1	179557080	stop gained	G/A;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
rs12568913	NPHS2	0.925	0.080	1	179557179	stop gained	G/A;C;T	snv	1.2E-05; 8.0E-06		2
rs74315347	NPHS2	0.925	0.080	1	179557227	missense variant	C/T	snv	1.2E-05	7.0E-06	2
rs1291398331	NPHS2	0.925	0.080	1	179557231	splice acceptor variant	C/A	snv		7.0E-06	2
rs530318579	NPHS2	0.807	0.080	1	179559710	missense variant	C/T	snv	1.4E-05		6