DisGeNET - a database of gene-disease associations

List of associated variants

CEROID LIPOFUSCINOSIS, NEURONAL, 5, C1850442

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
rs202146713	FBXL3 ; CLN5	1.000	0.120	13	76995233	splice region variant	G/C	snv	1.2E-05	2.1E-05	1
rs267606738	FBXL3 ; CLN5	1.000	0.120	13	76995119	missense variant	G/A	snv			1
rs28940280	FBXL3 ; CLN5	0.925	0.120	13	77000580	missense variant	G/A	snv	8.0E-06		2
rs386833963	FBXL3 ; CLN5	1.000	0.120	13	77000771	stop gained	C/A	snv			1
rs386833964	CLN5 ; FBXL3	1.000	0.120	13	77000813	frameshift variant	CT/-	delins			1
rs386833965	FBXL3 ; CLN5	1.000	0.120	13	77000817	frameshift variant	TT/-	del			1
rs386833966	FBXL3 ; CLN5	0.925	0.120	13	77000824	frameshift variant	T/-	delins			2
rs386833967	FBXL3 ; CLN5	0.925	0.120	13	77000845	frameshift variant	AACA/-	delins		2.8E-05	2
rs386833968	CLN5 ; FBXL3	1.000	0.120	13	77000882	stop gained	G/A;T	snv	4.3E-06		1
rs386833969	FBXL3 ; CLN5	0.925	0.120	13	77000918	frameshift variant	AT/-	delins			2
rs386833970	FBXL3 ; CLN5	1.000	0.120	13	76992238	frameshift variant	-/C	delins			1
rs386833971	FBXL3 ; CLN5	1.000	0.120	13	76995175	stop gained	C/T	snv	2.4E-05		1
rs386833972	CLN5 ; FBXL3	1.000	0.120	13	76995939	stop gained	T/G	snv	4.0E-06; 4.0E-06		1
rs386833973	CLN5 ; FBXL3	1.000	0.120	13	76995942	frameshift variant	-/A	ins			1
rs386833974	CLN5 ; FBXL3	1.000	0.120	13	76995980	stop gained	C/T	snv			1
rs386833975	CLN5 ; FBXL3	0.925	0.120	13	76995990	missense variant	A/G	snv			2
rs386833976	FBXL3 ; CLN5	1.000	0.120	13	76996008	missense variant	T/C	snv	4.0E-06		1
rs386833977	FBXL3 ; CLN5	1.000	0.120	13	76996028	missense variant	C/T	snv			1
rs386833978	CLN5 ; FBXL3	1.000	0.120	13	76996035	missense variant	G/C	snv			1
rs386833979	FBXL3 ; CLN5	0.925	0.120	13	76996083	frameshift variant	-/C	delins			2
rs386833980	FBXL3 ; CLN5	0.925	0.120	13	76996086	stop gained	G/A	snv	1.6E-05	3.5E-05	2
rs386833981	FBXL3 ; CLN5	0.925	0.120	13	77000517	missense variant	T/G	snv			3
rs386833982	FBXL3 ; CLN5	1.000	0.120	13	77000663	frameshift variant	A/-	delins			1
rs386833983	CLN5 ; FBXL3	1.000	0.120	13	77000695	frameshift variant	GGAAATGAAACATCTG/-	delins			1
rs546989392	CLN5 ; FBXL3	0.925	0.120	13	76996010	stop gained	C/T	snv	2.0E-05	7.7E-05	2