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
rs1554902052	TPP1	0.925	0.120	11	6617430	splice acceptor variant	T/C	snv			2
rs1554902216	TPP1	0.925	0.120	11	6618820	frameshift variant	AG/-	delins			2
rs202189057	TPP1	0.925	0.120	11	6617695	stop gained	A/T	snv	4.0E-06		2
rs398122959	TPP1	0.925	0.120	11	6615199	missense variant	A/C	snv	4.0E-06	1.4E-05	2
rs750428882	TPP1	1.000	0.120	11	6616375	missense variant	G/A;C	snv	4.0E-06		2
rs763162812	TPP1	0.925	0.120	11	6616720	missense variant	T/A	snv	1.6E-05	2.8E-05	2
rs765380155	TPP1	0.925	0.120	11	6616374	missense variant	C/T	snv	4.0E-06	1.4E-05	2
rs786204753	TPP1	0.925	0.120	11	6615217	stop gained	C/T	snv			2
rs1060502179	TPP1	1.000	0.120	11	6618823	missense variant	A/C	snv		7.0E-06	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
rs796052407	CTSD	1.000	0.120	11	1759569	missense variant	G/A	snv	4.0E-06	4.2E-05	1
rs104894385	FBXL3 ; CLN5	0.925	0.120	13	76992176	stop gained	G/A;T	snv	2.7E-05; 3.1E-05		2
rs104894386	CLN5 ; FBXL3	0.925	0.120	13	76995077	missense variant	G/A;C	snv	8.0E-06		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
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
rs386833980	FBXL3 ; CLN5	0.925	0.120	13	76996086	stop gained	G/A	snv	1.6E-05	3.5E-05	2
rs546989392	CLN5 ; FBXL3	0.925	0.120	13	76996010	stop gained	C/T	snv	2.0E-05	7.7E-05	2
rs786204644	FBXL3 ; CLN5	0.925	0.120	13	77000667	frameshift variant	AT/-	delins			2
rs1555273604	FBXL3 ; CLN5	1.000	0.120	13	76992207	frameshift variant	-/ATCCGGGCTGG	delins			1