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
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
rs74315348	NPHS2 ; AXDND1	0.925	0.080	1	179552605	missense variant	G/A;C	snv	2.0E-05; 4.0E-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
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
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
rs869312747	NPHS2 ; AXDND1	0.925	0.080	1	179552664	missense variant	G/A	snv			2
rs869025561	WT1	1.000	0.080	11	32392755	missense variant	C/A	snv			1
rs1057516747	NPHS2	0.925	0.080	1	179575722	frameshift variant	-/AGCCC	delins		7.0E-06	2
rs1291398331	NPHS2	0.925	0.080	1	179557231	splice acceptor variant	C/A	snv		7.0E-06	2
rs74315347	NPHS2	0.925	0.080	1	179557227	missense variant	C/T	snv	1.2E-05	7.0E-06	2
rs1462028977	NPHS2	0.851	0.080	1	179575654	stop gained	G/A	snv	4.3E-06	7.0E-06	4
rs74315343	NPHS2	0.851	0.080	1	179561328	stop gained	G/A	snv	1.6E-05	7.0E-06	5
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
rs748812981	NPHS2	0.851	0.080	1	179557051	missense variant	C/A	snv	8.0E-06; 4.0E-06	2.8E-05	4
rs749740335	NPHS2 ; AXDND1	0.925	0.080	1	179552620	frameshift variant	TT/-	delins	6.8E-05	9.1E-05	3
rs775006954	AXDND1 ; NPHS2	0.925	0.080	1	179554491	missense variant	A/T	snv	1.6E-05	1.0E-04	2
rs200482683	AXDND1 ; NPHS2	0.827	0.120	1	179552608	missense variant	C/T	snv	1.1E-04	1.1E-04	6