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
rs1057516880	NPHS2	0.925	0.080	1	179575769	frameshift variant	-/TA	ins			2
rs1057516395	NPHS2	0.925	0.080	1	179564699	frameshift variant	G/-	del			2
rs1553316575	NPHS2	0.925	0.080	1	179575616	frameshift variant	C/-	del			2
rs1558355124	NPHS2	0.925	0.080	1	179575698	frameshift variant	T/-	del			2
rs775170915	NPHS2 ; AXDND1	0.925	0.080	1	179551377	frameshift variant	A/-	del	1.2E-05		2
rs1272948499	NPHS2	0.925	0.080	1	179575709	frameshift variant	C/-	delins		1.4E-05	3
rs749740335	NPHS2 ; AXDND1	0.925	0.080	1	179552620	frameshift variant	TT/-	delins	6.8E-05	9.1E-05	3
rs1057516747	NPHS2	0.925	0.080	1	179575722	frameshift variant	-/AGCCC	delins		7.0E-06	2
rs1057516900	NPHS2 ; AXDND1	0.925	0.080	1	179551262	frameshift variant	-/G	delins	4.0E-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
rs1553316648	NPHS2	0.925	0.080	1	179575763	frameshift variant	T/CC	delins			2
rs528833893	NPHS2	0.925	0.080	1	179559746	frameshift variant	A/-;AA	delins			2
rs61747728	NPHS2	0.701	0.240	1	179557079	missense variant	C/T	snv	3.0E-02	2.8E-02	20
rs74315342	NPHS2	0.763	0.120	1	179561327	missense variant	C/T	snv	6.0E-04	5.3E-04	10
rs587776576	WT1	0.790	0.280	11	32391967	splice region variant	C/T	snv			7
rs200482683	AXDND1 ; NPHS2	0.827	0.120	1	179552608	missense variant	C/T	snv	1.1E-04	1.1E-04	6
rs530318579	NPHS2	0.807	0.080	1	179559710	missense variant	C/T	snv	1.4E-05		6
rs869025495	NPHS2	0.851	0.080	1	179564715	missense variant	G/A	snv			6
rs74315343	NPHS2	0.851	0.080	1	179561328	stop gained	G/A	snv	1.6E-05	7.0E-06	5
rs1462028977	NPHS2	0.851	0.080	1	179575654	stop gained	G/A	snv	4.3E-06	7.0E-06	4
rs748812981	NPHS2	0.851	0.080	1	179557051	missense variant	C/A	snv	8.0E-06; 4.0E-06	2.8E-05	4
rs114896482	NPHS1	0.882	0.080	19	35842487	missense variant	G/A	snv	2.3E-03	1.5E-03	3
rs1031744496	NPHS2 ; AXDND1	0.925	0.080	1	179551453	splice acceptor variant	T/G	snv			2
rs1057516414	NPHS2	0.925	0.080	1	179557080	stop gained	G/A;T	snv	8.0E-06		2