DisGeNET - a database of gene-disease associations

List of associated variants

CEROID LIPOFUSCINOSIS, NEURONAL, 5, C1850442

Source: ALL

Results per page

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
rs750935331	FBXL3 ; CLN5	1.000	0.120	13	77000850	stop gained	C/G;T	snv	4.1E-06		1
rs764495616	FBXL3 ; CLN5	1.000	0.120	13	77000685	stop gained	G/C;T	snv			1
rs764790770	CLN5 ; FBXL3	1.000	0.120	13	76992175	stop gained	G/A;C	snv	2.2E-04	2.8E-05	1
rs869312751	FBXL3 ; CLN5	1.000	0.120	13	76996109	stop gained	C/T	snv			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
rs386833969	FBXL3 ; CLN5	0.925	0.120	13	77000918	frameshift variant	AT/-	delins			2
rs386833979	FBXL3 ; CLN5	0.925	0.120	13	76996083	frameshift variant	-/C	delins			2
rs587780315	FBXL3 ; CLN5	1.000	0.120	13	76996086	frameshift variant	G/-	delins			2
rs786204644	FBXL3 ; CLN5	0.925	0.120	13	77000667	frameshift variant	AT/-	delins			2
rs1057516814	CLN5 ; FBXL3	1.000	0.120	13	76992171	frameshift variant	TC/G	delins			1
rs1057517134	CLN5 ; FBXL3	1.000	0.120	13	76992250	frameshift variant	ACTGGCCGGTGCC/-	delins			1
rs1555273609	CLN5 ; FBXL3	1.000	0.120	13	76992215	frameshift variant	G/-	delins			1
rs1555273882	CLN5 ; FBXL3	1.000	0.120	13	76995079	frameshift variant	C/-	delins			1
rs1555273992	CLN5 ; FBXL3	1.000	0.120	13	76995998	frameshift variant	T/-	delins			1
rs1555274005	FBXL3 ; CLN5	1.000	0.120	13	76996071	frameshift variant	-/TGATG	delins			1
rs1555274337	CLN5 ; FBXL3	1.000	0.120	13	77000556	frameshift variant	-/CAGAGACA	delins			1
rs1555274343	FBXL3 ; CLN5	1.000	0.120	13	77000594	frameshift variant	GT/-	delins			1
rs1555274365	CLN5 ; FBXL3	1.000	0.120	13	77000729	frameshift variant	GGAA/-	delins			1
rs1555274369	FBXL3 ; CLN5	1.000	0.120	13	77000796	frameshift variant	A/-	delins			1
rs1555274373	CLN5 ; FBXL3	1.000	0.120	13	77000808	frameshift variant	T/-	delins			1
rs1555274387	CLN5 ; FBXL3	1.000	0.120	13	77000883	frameshift variant	T/-	delins			1
rs386833964	CLN5 ; FBXL3	1.000	0.120	13	77000813	frameshift variant	CT/-	delins			1
rs386833970	FBXL3 ; CLN5	1.000	0.120	13	76992238	frameshift variant	-/C	delins			1
rs386833982	FBXL3 ; CLN5	1.000	0.120	13	77000663	frameshift variant	A/-	delins			1