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
rs137852696	PPT1	0.882	0.120	1	40092409	missense variant	T/G	snv	1.6E-05	5.6E-05	3
rs386833698	CLN3	0.925	0.120	16	28482102	splice region variant	T/G	snv			2
rs1554902052	TPP1	0.925	0.120	11	6617430	splice acceptor variant	T/C	snv			2
rs137852695	PPT1	0.925	0.120	1	40091398	missense variant	T/A	snv	7.0E-04	6.0E-04	4
rs763162812	TPP1	0.925	0.120	11	6616720	missense variant	T/A	snv	1.6E-05	2.8E-05	2
rs386833966	FBXL3 ; CLN5	0.925	0.120	13	77000824	frameshift variant	T/-	delins			2
rs768422260	CLN6	0.925	0.120	15	68208280	inframe deletion	GAG/-	delins		1.4E-05	2
rs267606737	CLN3	0.882	0.120	16	28486427	stop gained	G/T	snv	4.0E-06		3
rs1057516677	CLN3	0.925	0.120	16	28477875	stop gained	G/T	snv			2
rs144495588	CLN8	0.925	0.120	8	1771553	stop gained	G/C;T	snv	8.0E-06; 1.2E-05		2
rs154774640	CLN6	0.925	0.120	15	68218584	stop gained	G/C	snv	8.0E-06	2.1E-05	2
rs1564855860	TPP1	1.000	0.120	11	6617769	stop gained	G/C	snv			1
rs104894385	FBXL3 ; CLN5	0.925	0.120	13	76992176	stop gained	G/A;T	snv	2.7E-05; 3.1E-05		2
rs140948465	MFSD8	0.925	0.120	4	127930800	missense variant	G/A;T	snv	4.0E-06; 8.0E-06		2
rs386833694	CLN3	0.925	0.120	16	28482161	missense variant	G/A;T	snv	4.0E-06		2
rs759080581	TPP1	1.000	0.120	11	6618809	stop gained	G/A;T	snv	1.2E-05; 4.0E-06		1
rs137852700	PPT1	0.851	0.120	1	40089495	stop gained	G/A;C	snv	2.4E-04; 1.2E-05		4
rs104894386	CLN5 ; FBXL3	0.925	0.120	13	76995077	missense variant	G/A;C	snv	8.0E-06		2
rs750428882	TPP1	1.000	0.120	11	6616375	missense variant	G/A;C	snv	4.0E-06		2
rs119455955	TPP1	0.851	0.120	11	6617040	stop gained	G/A	snv	2.2E-04	2.4E-04	4
rs750033880	KCTD7	0.925	0.120	7	66633302	missense variant	G/A	snv		1.4E-05	3
rs756564767	TPP1	0.882	0.120	11	6617627	stop gained	G/A	snv	6.4E-05	4.2E-05	3
rs121908202	TPP1	0.925	0.120	11	6615172	missense variant	G/A	snv	2.4E-05		2
rs28940280	FBXL3 ; CLN5	0.925	0.120	13	77000580	missense variant	G/A	snv	8.0E-06		2
rs386833709	CLN3	0.925	0.120	16	28489298	stop gained	G/A	snv		1.4E-05	2