DisGeNET - a database of gene-disease associations

List of associated variants

Childhood nephrotic syndrome, C3874381

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
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs2032582	ABCB1	0.538	0.800	7	87531302	missense variant	A/C;T	snv	0.54; 3.8E-02		97
rs1128503	ABCB1	0.564	0.760	7	87550285	synonymous variant	A/G	snv	0.54	0.63	64
rs755622	MIF-AS1 ; MIF	0.611	0.720	22	23894205	intron variant	G/C	snv		0.26	44
rs61747728	NPHS2	0.701	0.240	1	179557079	missense variant	C/T	snv	3.0E-02	2.8E-02	20
rs1241977606	ALB	0.925	0.080	4	73416326	missense variant	A/G	snv	4.0E-06		2