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
rs1799937	WT1	0.882	0.160	11	32389228	intron variant	A/G	snv	0.35	0.35	3
rs2301254	WT1-AS ; WT1	0.882	0.160	11	32436129	intron variant	A/G	snv		0.48	3
rs121908415	ACTN4 ; LOC107985291	0.925	0.080	19	38710286	missense variant	A/G	snv		7.0E-06	2
rs1241977606	ALB	0.925	0.080	4	73416326	missense variant	A/G	snv	4.0E-06		2
rs231775	CTLA4	0.504	0.720	2	203867991	missense variant	A/G;T	snv	0.42; 4.0E-06		115
rs397518473	ALG13	1.000	0.080	X	111687924	missense variant	AC/TT	mnv			1
rs866294686	TRIM8 ; LOC105378460	0.683	0.480	10	102657073	stop gained	C/A;T	snv			43
rs748106387	SMARCAL1	0.851	0.240	2	216415427	stop gained	C/A;T	snv	2.8E-05		9
rs1800471	TGFB1	0.597	0.840	19	41352971	missense variant	C/G;T	snv	5.6E-02		48
rs1003629254	EIF2AK3	0.925	0.080	2	88595599	missense variant	C/G;T	snv			2
rs920479356	NPHS2	1.000	0.080	1	179575836	missense variant	C/G;T	snv			1
rs5742909	CTLA4	0.614	0.680	2	203867624	upstream gene variant	C/T	snv		6.7E-02	40
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
rs121434395	TRPC6	0.925	0.080	11	101453062	missense variant	C/T	snv			2
rs121908416	LOC107985291 ; ACTN4	0.925	0.080	19	38710299	missense variant	C/T	snv			2
rs1283740147	DMPK	1.000	0.080	19	45777777	missense variant	C/T	snv	4.0E-06	7.0E-06	1
rs2071327	NPHS1	1.000	0.080	19	35831368	synonymous variant	C/T	snv	0.40	0.32	1
rs75462234	PAX2	0.851	0.160	10	100749772	frameshift variant	G/-;GG;GGG	delins			4
rs1222213359	VEGFA	0.574	0.720	6	43770966	missense variant	G/A	snv			62
rs140511594	TTC21B ; TTC21B-AS1	0.742	0.360	2	165941111	missense variant	G/A	snv	1.3E-04	1.1E-04	13
rs267602852	WT1	0.827	0.160	11	32417631	missense variant	G/A	snv			7