DisGeNET - a database of gene-disease associations

List of associated variants

Nephrotic Syndrome, C0027726

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 GENOME	Num. diseases
rs755622	MIF-AS1 ; MIF	0.611	0.720	22	23894205	intron variant	G/C	snv	0.26	44
rs33388	NR3C1	0.776	0.360	5	143317730	intron variant	A/T	snv	0.53	12
rs869025224	ZAP70	0.827	0.240	2	97734709	missense variant	G/C	snv	7.0E-06	7
rs3124591	NOTCH1	0.827	0.120	9	136495945	3 prime UTR variant	C/T	snv	0.62	6
rs3124599	NOTCH1	0.851	0.080	9	136509318	intron variant	G/A	snv	0.13	5
rs121912491	LAMB2	0.882	0.240	3	49131128	missense variant	C/T	snv	7.0E-06	4
rs33389	NR3C1	0.882	0.280	5	143320934	intron variant	C/G;T	snv		4
rs1063348	HLA-DQB1-AS1 ; HLA-DQB1	1.000	0.080	6	32660146	3 prime UTR variant	A/G	snv	0.43	2
rs1569504068	COL4A5	1.000		X	108655388	frameshift variant	G/-	del		2
rs2222722	LINC00472 ; MIR30A	1.000	0.080	6	71404009	intron variant	G/A	snv	0.29	2
rs2858829		1.000	0.040	6	116447754	intron variant	A/G	snv	0.33	2
rs397514479	ENTPD5 ; COQ6	1.000		14	73961339	missense variant	C/A	snv		2
rs9444348	NT5E			6	85465856	intron variant	G/A	snv	0.43	2
rs10518133	PARM1			4	75025495	intron variant	G/A	snv	9.7E-02	1
rs16946160	GPC5			13	91551559	intron variant	G/A	snv	0.13	1
rs201899638	PTPRD			9	9932324	intron variant	T/C;G	snv		1
rs2637678				6	116466215	upstream gene variant	T/C	snv	0.36	1
rs2746419	AHI1			6	135332717	intron variant	A/C	snv	0.46	1
rs28366266	HLA-DRB1			6	32591976	upstream gene variant	T/C	snv	0.12	1
rs2858317				6	32694503	intergenic variant	C/A	snv	0.41	1
rs4431401	NT5E			6	85479802	intron variant	T/C	snv	0.46	1
rs4642516				6	32689766	TF binding site variant	G/A;T	snv		1
rs487575	LOC105374264			3	187880609	intergenic variant	C/T	snv	0.23	1
rs59882675	BTC			4	74763902	intron variant	A/G	snv	0.23	1
rs6020178	SNAI1			20	49987403	intron variant	T/C	snv	0.35	1