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
rs386833659	PPT1	0.925	0.120	1	40078659	splice acceptor variant	C/A;T	snv	4.0E-06		2
rs386833694	CLN3	0.925	0.120	16	28482161	missense variant	G/A;T	snv	4.0E-06		2
rs386833698	CLN3	0.925	0.120	16	28482102	splice region variant	T/G	snv			2
rs386833732	CLN3	0.925	0.120	16	28486455	frameshift variant	C/-;CC	delins			2
rs386833740	CLN3	0.925	0.120	16	28482344	frameshift variant	-/T	delins	3.2E-05; 4.0E-06		2
rs386833966	FBXL3 ; CLN5	0.925	0.120	13	77000824	frameshift variant	T/-	delins			2
rs386833969	FBXL3 ; CLN5	0.925	0.120	13	77000918	frameshift variant	AT/-	delins			2
rs386833975	CLN5 ; FBXL3	0.925	0.120	13	76995990	missense variant	A/G	snv			2
rs386833979	FBXL3 ; CLN5	0.925	0.120	13	76996083	frameshift variant	-/C	delins			2
rs587776892	DNAJC5	0.925	0.120	20	63930871	inframe deletion	CTC/-	delins			2
rs63751177	GRN	1.000	0.120	17	44351438	stop gained	G/A	snv			2
rs750428882	TPP1	1.000	0.120	11	6616375	missense variant	G/A;C	snv	4.0E-06		2
rs774543080	CLN6	0.925	0.120	15	68211765	frameshift variant	AG/-	delins	8.0E-06		2
rs786204644	FBXL3 ; CLN5	0.925	0.120	13	77000667	frameshift variant	AT/-	delins			2
rs786204753	TPP1	0.925	0.120	11	6615217	stop gained	C/T	snv			2
rs1267314028	CLN3	1.000	0.120	16	28486388	synonymous variant	G/A	snv			1
rs1555273604	FBXL3 ; CLN5	1.000	0.120	13	76992207	frameshift variant	-/ATCCGGGCTGG	delins			1
rs1555273881	CLN5 ; FBXL3	1.000	0.120	13	76995075	frameshift variant	C/-	delins			1
rs1564855860	TPP1	1.000	0.120	11	6617769	stop gained	G/C	snv			1
rs746085696	TPP1	1.000	0.120	11	6619191	splice region variant	C/G;T	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
rs762896453	CLN3	1.000	0.120	16	28482353	synonymous variant	G/A	snv	4.0E-06		1
rs794729218	FBXL3 ; CLN5	1.000	0.120	13	76995933	frameshift variant	G/-	del			1
rs104894060	CLN8	0.882	0.120	8	1780316	missense variant	C/T	snv	3.2E-05	7.0E-06	3
rs386833736	CLN3	0.925	0.120	16	28486401	frameshift variant	-/A	delins	1.2E-05	7.0E-06	2