DisGeNET - a database of gene-disease associations

List of associated variants

Focal Segmental Glomerulosclerosis 5, C2750475

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
rs530391015	INF2	0.882	0.080	14	104703445	stop gained	G/A;C;T	snv	4.0E-06		5
rs267607183	INF2	0.882	0.080	14	104703440	missense variant	G/A	snv			3
rs1555373599	INF2	0.925	0.080	14	104703195	inframe deletion	GCCCTGGAC/-	delins			2
rs267606879	INF2	0.925	0.080	14	104703428	missense variant	G/A	snv		7.0E-06	2
rs1566777560	INF2	1.000	0.080	14	104701582	missense variant	G/A	snv			1
rs1566778651	INF2	1.000	0.080	14	104703317	missense variant	G/A;C	snv			1
rs1566778676	INF2	1.000	0.080	14	104703337	missense variant	G/A	snv			1
rs201383094	INF2	1.000	0.080	14	104701402	missense variant	G/A	snv	3.6E-04	3.3E-04	1
rs267606877	INF2	1.000	0.080	14	104703343	missense variant	T/C	snv			1
rs267606878	INF2	1.000	0.080	14	104703439	missense variant	C/T	snv			1
rs267606880	INF2	1.000	0.080	14	104701490	missense variant	T/C	snv			1
rs912928648	INF2	1.000	0.080	14	104703427	missense variant	C/T	snv	4.0E-06		1