DisGeNET - a database of gene-disease associations

List of associated variants

Focal glomerulosclerosis, C0017668

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
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
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
rs267607555	LMNA	0.807	0.280	1	156136009	missense variant	C/T	snv		7.0E-06	6
rs530318579	NPHS2	0.807	0.080	1	179559710	missense variant	C/T	snv	1.4E-05		6
rs74315344	NPHS2	0.851	0.080	1	179575806	missense variant	G/A	snv	2.8E-03	4.2E-03	4
rs761613959	MUC1	0.851	0.080	1	155187356	stop gained	G/A	snv	3.2E-05	7.0E-06	4
rs748203170	AXDND1 ; NPHS2	1.000	0.080	1	179551346	missense variant	G/A	snv	8.0E-06		1
rs920479356	NPHS2	1.000	0.080	1	179575836	missense variant	C/G;T	snv			1
rs231775	CTLA4	0.504	0.720	2	203867991	missense variant	A/G;T	snv	0.42; 4.0E-06		115
rs5742909	CTLA4	0.614	0.680	2	203867624	upstream gene variant	C/T	snv		6.7E-02	40
rs140511594	TTC21B ; TTC21B-AS1	0.742	0.360	2	165941111	missense variant	G/A	snv	1.3E-04	1.1E-04	13
rs119473033	SMARCAL1	0.827	0.320	2	216478216	stop gained	G/T	snv	8.0E-05	1.3E-04	11
rs188942711	COL4A3 ; MFF-DT	0.763	0.200	2	227253336	missense variant	G/A;T	snv	2.8E-05; 4.0E-06		9
rs748106387	SMARCAL1	0.851	0.240	2	216415427	stop gained	C/A;T	snv	2.8E-05		9
rs1003629254	EIF2AK3	0.925	0.080	2	88595599	missense variant	C/G;T	snv			2
rs149117087	COL4A4	1.000	0.080	2	227022069	missense variant	T/A	snv	8.5E-04	2.0E-04	1
rs1241977606	ALB	0.925	0.080	4	73416326	missense variant	A/G	snv	4.0E-06		2
rs1222213359	VEGFA	0.574	0.720	6	43770966	missense variant	G/A	snv			62
rs866294686	TRIM8 ; LOC105378460	0.683	0.480	10	102657073	stop gained	C/A;T	snv			43
rs753350907	PAX2	0.827	0.080	10	100806499	missense variant	G/A;C;T	snv	4.0E-06; 4.0E-06		5
rs75462234	PAX2	0.851	0.160	10	100749772	frameshift variant	G/-;GG;GGG	delins			4
rs1131692055	PAX2	0.925	0.080	10	100781314	missense variant	G/A	snv			2
rs1422329310	PLCE1	0.925	0.280	10	94265844	synonymous variant	G/A	snv	4.0E-06		2
rs267602852	WT1	0.827	0.160	11	32417631	missense variant	G/A	snv			7