DisGeNET - a database of gene-disease associations

List of associated variants

NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES, C3280113

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
rs121912491	LAMB2	0.882	0.240	3	49131128	missense variant	C/T	snv		7.0E-06	4
rs121912489	LAMB2	0.925	0.240	3	49126449	stop gained	G/C	snv			2
rs121912492	LAMB2	0.925	0.240	3	49130815	missense variant	A/G	snv			2
rs267607207	LAMB2	0.925	0.240	3	49123216	missense variant	G/T	snv	2.5E-04	2.7E-04	2
rs267607208	LAMB2	0.925	0.240	3	49123179	missense variant	G/A	snv	4.0E-06		2
rs1553776921	LAMB2 ; USP19	0.925	0.240	3	49122170	frameshift variant	-/C	delins			2
rs1560075787	LAMB2	1.000		3	49129644	frameshift variant	C/-	del			1
rs387906644	LAMB2	1.000		3	49132135	missense variant	T/C	snv	4.0E-06	7.0E-06	1
rs779317615	LAMB2	1.000		3	49132490	splice donor variant	C/G;T	snv	3.2E-05		1
rs769399002	USP19 ; LAMB2	1.000		3	49122063	frameshift variant	G/-	del		1.4E-05	1