DisGeNET - a database of gene-disease associations

List of associated variants

CEROID LIPOFUSCINOSIS, NEURONAL, 2, C1876161

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
rs1057516264	TPP1	0.776	0.280	11	6614968	frameshift variant	C/-;CC	delins			13
rs1554901898	TPP1	0.776	0.280	11	6616858	frameshift variant	A/-	delins			12
rs864309505	TPP1	0.807	0.200	11	6615220	missense variant	T/G	snv			10
rs1554902217	TPP1	0.851	0.160	11	6618821	frameshift variant	A/-	del			7
rs56144125	TPP1	0.827	0.240	11	6617154	splice acceptor variant	C/A;G;T	snv	4.0E-04; 1.2E-05		6
rs1564855725	TPP1	0.882	0.160	11	6617621	splice region variant	C/T	snv			5
rs553522118	TPP1	0.882	0.160	11	6617338	stop gained	G/A;T	snv			5
rs878855331	TPP1	0.925	0.120	11	6617319	splice donor variant	AAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACC/-	delins			5
rs119455955	TPP1	0.851	0.120	11	6617040	stop gained	G/A	snv	2.2E-04	2.4E-04	4
rs796053439	TPP1	0.925	0.240	11	6616714	missense variant	T/C;G	snv	4.0E-06; 4.0E-06		4
rs119455957	TPP1	0.882	0.120	11	6616696	missense variant	C/A	snv	8.0E-06	7.0E-06	3
rs756564767	TPP1	0.882	0.120	11	6617627	stop gained	G/A	snv	6.4E-05	4.2E-05	3
rs1057516945	TPP1	0.925	0.160	11	6616973	splice donor variant	A/C	snv			2
rs113019349	TPP1	0.925	0.120	11	6616004	splice donor variant	C/G;T	snv			2
rs1184563885	TPP1	0.925	0.120	11	6614892	stop gained	G/A	snv	1.2E-05	7.0E-06	2
rs119455954	TPP1	0.925	0.120	11	6616056	missense variant	C/T	snv	1.6E-05	4.9E-05	2
rs119455956	TPP1	0.925	0.120	11	6615256	missense variant	C/T	snv	8.0E-06	7.0E-06	2
rs121908199	TPP1	0.925	0.120	11	6615542	missense variant	C/T	snv			2
rs121908200	TPP1	0.925	0.120	11	6615442	missense variant	C/G	snv	2.0E-05	2.1E-05	2
rs121908202	TPP1	0.925	0.120	11	6615172	missense variant	G/A	snv	2.4E-05		2
rs121908209	TPP1	0.925	0.120	11	6617045	missense variant	C/G;T	snv	4.0E-06; 4.0E-06		2
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
rs763162812	TPP1	0.925	0.120	11	6616720	missense variant	T/A	snv	1.6E-05	2.8E-05	2