DisGeNET - a database of gene-disease associations

List of associated variants

Steroid resistant nephrotic syndrome of childhood, C3266102

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
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
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
rs753350907	PAX2	0.827	0.080	10	100806499	missense variant	G/A;C;T	snv	4.0E-06; 4.0E-06		5
rs1071630	HLA-DQA1 ; HLA-DQA2 ; LOC107986589	0.851	0.120	6	32641349	missense variant	T/A;C	snv	0.49		4
rs761613959	MUC1	0.851	0.080	1	155187356	stop gained	G/A	snv	3.2E-05	7.0E-06	4
rs1462028977	NPHS2	0.851	0.080	1	179575654	stop gained	G/A	snv	4.3E-06	7.0E-06	4
rs74315344	NPHS2	0.851	0.080	1	179575806	missense variant	G/A	snv	2.8E-03	4.2E-03	4
rs748812981	NPHS2	0.851	0.080	1	179557051	missense variant	C/A	snv	8.0E-06; 4.0E-06	2.8E-05	4
rs202128397	CRB2	0.882	0.080	9	123370935	missense variant	C/T	snv	1.2E-05		3
rs1129740	HLA-DQA2 ; LOC107986589 ; HLA-DQA1	0.882	0.080	6	32641328	missense variant	G/A	snv	0.49	0.26	3
rs1136759	HLA-DRB1	0.882	0.080	6	32584354	missense variant	C/A;G;T	snv	8.9E-03; 0.23; 1.2E-04		3
rs17878703	HLA-DRB1	0.882	0.080	6	32584360	missense variant	G/A;C;T	snv	2.6E-02; 5.7E-04; 0.18; 1.3E-05		3
rs1001703993	PPOX	0.882	0.120	1	161170696	missense variant	G/A;T	snv	8.0E-06	1.4E-05	3
rs146776939	TRPC6	0.882	0.080	11	101504595	missense variant	T/C	snv	2.0E-04	2.2E-04	3
rs760415536	TRPC6	0.925	0.080	11	101583445	missense variant	C/G	snv		7.0E-06	2