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
rs386833973	CLN5 ; FBXL3	1.000	0.120	13	76995942	frameshift variant	-/A	ins			1
rs386833979	FBXL3 ; CLN5	0.925	0.120	13	76996083	frameshift variant	-/C	delins			2
rs386833970	FBXL3 ; CLN5	1.000	0.120	13	76992238	frameshift variant	-/C	delins			1
rs1555274337	CLN5 ; FBXL3	1.000	0.120	13	77000556	frameshift variant	-/CAGAGACA	delins			1
rs1555274005	FBXL3 ; CLN5	1.000	0.120	13	76996071	frameshift variant	-/TGATG	delins			1
rs1555274369	FBXL3 ; CLN5	1.000	0.120	13	77000796	frameshift variant	A/-	delins			1
rs386833982	FBXL3 ; CLN5	1.000	0.120	13	77000663	frameshift variant	A/-	delins			1
rs386833975	CLN5 ; FBXL3	0.925	0.120	13	76995990	missense variant	A/G	snv			2
rs148862100	FBXL3 ; CLN5	1.000	0.120	13	77000866	missense variant	A/G	snv	1.3E-05	7.0E-06	1
rs386833967	FBXL3 ; CLN5	0.925	0.120	13	77000845	frameshift variant	AACA/-	delins		2.8E-05	2
rs1057517134	CLN5 ; FBXL3	1.000	0.120	13	76992250	frameshift variant	ACTGGCCGGTGCC/-	delins			1
rs386833969	FBXL3 ; CLN5	0.925	0.120	13	77000918	frameshift variant	AT/-	delins			2
rs786204644	FBXL3 ; CLN5	0.925	0.120	13	77000667	frameshift variant	AT/-	delins			2
rs1555273567	FBXL3 ; CLN5	1.000	0.120	13	76992116	frameshift variant	C/-	del			1
rs1555273882	CLN5 ; FBXL3	1.000	0.120	13	76995079	frameshift variant	C/-	delins			1
rs386833963	FBXL3 ; CLN5	1.000	0.120	13	77000771	stop gained	C/A	snv			1
rs750935331	FBXL3 ; CLN5	1.000	0.120	13	77000850	stop gained	C/G;T	snv	4.1E-06		1
rs546989392	CLN5 ; FBXL3	0.925	0.120	13	76996010	stop gained	C/T	snv	2.0E-05	7.7E-05	2
rs386833971	FBXL3 ; CLN5	1.000	0.120	13	76995175	stop gained	C/T	snv	2.4E-05		1
rs386833974	CLN5 ; FBXL3	1.000	0.120	13	76995980	stop gained	C/T	snv			1
rs386833977	FBXL3 ; CLN5	1.000	0.120	13	76996028	missense variant	C/T	snv			1
rs869312751	FBXL3 ; CLN5	1.000	0.120	13	76996109	stop gained	C/T	snv			1
rs1555274344	CLN5 ; FBXL3	1.000	0.120	13	77000605	frameshift variant	CCTTTAAC/-	del			1
rs386833964	CLN5 ; FBXL3	1.000	0.120	13	77000813	frameshift variant	CT/-	delins			1
rs587780315	FBXL3 ; CLN5	1.000	0.120	13	76996086	frameshift variant	G/-	delins			2