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
rs779430565	TRPC6	0.882	0.080	11	101504316	missense variant	T/A	snv	1.2E-05	1.4E-05	3
rs1003629254	EIF2AK3	0.925	0.080	2	88595599	missense variant	C/G;T	snv			2
rs112545413	LOC107985291 ; ACTN4	0.925	0.080	19	38717102	missense variant	G/A	snv	1.2E-02	9.6E-03	2
rs1131692055	PAX2	0.925	0.080	10	100781314	missense variant	G/A	snv			2
rs121434390	TRPC6	0.925	0.080	11	101504634	missense variant	G/T	snv			2
rs121434395	TRPC6	0.925	0.080	11	101453062	missense variant	C/T	snv			2
rs121908415	ACTN4 ; LOC107985291	0.925	0.080	19	38710286	missense variant	A/G	snv		7.0E-06	2
rs121908416	LOC107985291 ; ACTN4	0.925	0.080	19	38710299	missense variant	C/T	snv			2
rs121908417	LOC107985291 ; ACTN4	0.925	0.080	19	38710307	missense variant	T/C	snv			2
rs1241977606	ALB	0.925	0.080	4	73416326	missense variant	A/G	snv	4.0E-06		2
rs1422329310	PLCE1	0.925	0.280	10	94265844	synonymous variant	G/A	snv	4.0E-06		2
rs2234591	WT1	0.925	0.080	11	32399873	intron variant	T/C	snv		1.4E-03	2
rs267606879	INF2	0.925	0.080	14	104703428	missense variant	G/A	snv		7.0E-06	2
rs3802829	TRPC6	0.925	0.080	11	101583461	missense variant	G/A	snv	8.2E-02	7.0E-02	2
rs754313620	INF2	0.925	0.080	14	104714452	missense variant	T/C;G	snv		7.0E-06	2
rs1283740147	DMPK	1.000	0.080	19	45777777	missense variant	C/T	snv	4.0E-06	7.0E-06	1
rs149117087	COL4A4	1.000	0.080	2	227022069	missense variant	T/A	snv	8.5E-04	2.0E-04	1
rs2071327	NPHS1	1.000	0.080	19	35831368	synonymous variant	C/T	snv	0.40	0.32	1
rs4806213	NPHS1	1.000	0.080	19	35831699	missense variant	T/C	snv	9.7E-02	0.11	1
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
rs71785313	APOL1	0.882	0.120	22	36265996	inframe deletion	TTATAA/-	delins			5
rs75462234	PAX2	0.851	0.160	10	100749772	frameshift variant	G/-;GG;GGG	delins			4
rs1186292917	INF2	1.000	0.080	14	104703420	frameshift variant	GC/-	delins			1
rs397518473	ALG13	1.000	0.080	X	111687924	missense variant	AC/TT	mnv			1