DisGeNET - a database of gene-disease associations

List of associated variants

Neuronal Ceroid-Lipofuscinoses, C0027877

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
rs386833740	CLN3	0.925	0.120	16	28482344	frameshift variant	-/T	delins	3.2E-05; 4.0E-06		2
rs104894386	CLN5 ; FBXL3	0.925	0.120	13	76995077	missense variant	G/A;C	snv	8.0E-06		2
rs386833975	CLN5 ; FBXL3	0.925	0.120	13	76995990	missense variant	A/G	snv			2
rs546989392	CLN5 ; FBXL3	0.925	0.120	13	76996010	stop gained	C/T	snv	2.0E-05	7.7E-05	2
rs121908080	CLN6	0.925	0.120	15	68211698	inframe deletion	ATG/-	delins			2
rs154774640	CLN6	0.925	0.120	15	68218584	stop gained	G/C	snv	8.0E-06	2.1E-05	2
rs768422260	CLN6	0.925	0.120	15	68208280	inframe deletion	GAG/-	delins		1.4E-05	2
rs774543080	CLN6	0.925	0.120	15	68211765	frameshift variant	AG/-	delins	8.0E-06		2
rs144495588	CLN8	0.925	0.120	8	1771553	stop gained	G/C;T	snv	8.0E-06; 1.2E-05		2
rs587776892	DNAJC5	0.925	0.120	20	63930871	inframe deletion	CTC/-	delins			2
rs104894385	FBXL3 ; CLN5	0.925	0.120	13	76992176	stop gained	G/A;T	snv	2.7E-05; 3.1E-05		2
rs28940280	FBXL3 ; CLN5	0.925	0.120	13	77000580	missense variant	G/A	snv	8.0E-06		2
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
rs386833980	FBXL3 ; CLN5	0.925	0.120	13	76996086	stop gained	G/A	snv	1.6E-05	3.5E-05	2
rs786204644	FBXL3 ; CLN5	0.925	0.120	13	77000667	frameshift variant	AT/-	delins			2
rs63751177	GRN	1.000	0.120	17	44351438	stop gained	G/A	snv			2
rs140948465	MFSD8	0.925	0.120	4	127930800	missense variant	G/A;T	snv	4.0E-06; 8.0E-06		2
rs587778809	MFSD8	0.925	0.120	4	127938781	splice donor variant	A/T	snv	8.0E-06	2.8E-05	2
rs386833634	PPT1	0.925	0.120	1	40092462	frameshift variant	-/T	delins	3.2E-05; 4.0E-06; 4.0E-06	1.4E-05	2
rs386833645	PPT1	0.925	0.120	1	40097236	start lost	C/T	snv		1.4E-05	2
rs386833651	PPT1	0.925	0.120	1	40089409	splice donor variant	C/T	snv			2
rs386833659	PPT1	0.925	0.120	1	40078659	splice acceptor variant	C/A;T	snv	4.0E-06		2