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
rs796052407	CTSD	1.000	0.120	11	1759569	missense variant	G/A	snv	4.0E-06	4.2E-05	1
rs794729218	FBXL3 ; CLN5	1.000	0.120	13	76995933	frameshift variant	G/-	del			1
rs786204753	TPP1	0.925	0.120	11	6615217	stop gained	C/T	snv			2
rs786204644	FBXL3 ; CLN5	0.925	0.120	13	77000667	frameshift variant	AT/-	delins			2
rs774543080	CLN6	0.925	0.120	15	68211765	frameshift variant	AG/-	delins	8.0E-06		2
rs768422260	CLN6	0.925	0.120	15	68208280	inframe deletion	GAG/-	delins		1.4E-05	2
rs765380155	TPP1	0.925	0.120	11	6616374	missense variant	C/T	snv	4.0E-06	1.4E-05	2
rs763162812	TPP1	0.925	0.120	11	6616720	missense variant	T/A	snv	1.6E-05	2.8E-05	2
rs762896453	CLN3	1.000	0.120	16	28482353	synonymous variant	G/A	snv	4.0E-06		1
rs759080581	TPP1	1.000	0.120	11	6618809	stop gained	G/A;T	snv	1.2E-05; 4.0E-06		1
rs756564767	TPP1	0.882	0.120	11	6617627	stop gained	G/A	snv	6.4E-05	4.2E-05	3
rs750428882	TPP1	1.000	0.120	11	6616375	missense variant	G/A;C	snv	4.0E-06		2
rs750033880	KCTD7	0.925	0.120	7	66633302	missense variant	G/A	snv		1.4E-05	3
rs746085696	TPP1	1.000	0.120	11	6619191	splice region variant	C/G;T	snv	4.0E-06		1
rs63751177	GRN	1.000	0.120	17	44351438	stop gained	G/A	snv			2
rs587779411	CLN8	0.851	0.160	8	1780498	missense variant	C/G;T	snv	4.0E-06		5
rs587778809	MFSD8	0.925	0.120	4	127938781	splice donor variant	A/T	snv	8.0E-06	2.8E-05	2
rs587776892	DNAJC5	0.925	0.120	20	63930871	inframe deletion	CTC/-	delins			2
rs56144125	TPP1	0.827	0.240	11	6617154	splice acceptor variant	C/A;G;T	snv	4.0E-04; 1.2E-05		6
rs546989392	CLN5 ; FBXL3	0.925	0.120	13	76996010	stop gained	C/T	snv	2.0E-05	7.7E-05	2
rs398122959	TPP1	0.925	0.120	11	6615199	missense variant	A/C	snv	4.0E-06	1.4E-05	2
rs397515352	CLN6	0.925	0.120	15	68211844	frameshift variant	-/G	delins	2.4E-05; 2.8E-05		3
rs386833980	FBXL3 ; CLN5	0.925	0.120	13	76996086	stop gained	G/A	snv	1.6E-05	3.5E-05	2
rs386833979	FBXL3 ; CLN5	0.925	0.120	13	76996083	frameshift variant	-/C	delins			2
rs386833975	CLN5 ; FBXL3	0.925	0.120	13	76995990	missense variant	A/G	snv			2