DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Gene: NPC1 ×

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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
rs80358257	NPC1	0.827	0.280	18	23538564	missense variant	G/C	snv	1.2E-04	2.1E-04	8
rs372445155	NPC1	0.851	0.280	18	23554890	missense variant	G/A	snv	1.6E-05	2.1E-05	7
rs80358259	NPC1	0.851	0.320	18	23536736	missense variant	A/G	snv	2.0E-04	2.4E-04	4
rs80358252	NPC1	0.925	0.160	18	23561461	missense variant	C/T	snv		1.4E-05	4
rs80358254	NPC1	0.882	0.160	18	23538609	missense variant	C/A;G;T	snv	4.8E-05; 2.0E-05; 4.8E-05; 1.6E-05		3
rs756815030	NPC1	0.925	0.160	18	23538610	frameshift variant	CT/-	del		7.0E-06	2
rs369368181	NPC1	0.925	0.160	18	23551653	missense variant	G/A	snv	1.6E-05	7.0E-06	2
rs139751448	NPC1	0.925	0.160	18	23556358	missense variant	C/T	snv	3.6E-05	7.0E-06	2
rs758902805	NPC1	0.925	0.160	18	23533495	missense variant	G/C;T	snv	8.0E-06		2
rs28942104	NPC1	0.925	0.160	18	23536811	missense variant	G/A	snv	2.8E-05	1.4E-05	2
rs372030650	NPC1	0.925	0.160	18	23539985	missense variant	T/A	snv	4.8E-05	1.1E-04	2
rs143124972	NPC1	0.925	0.160	18	23539447	missense variant	G/A	snv	1.6E-05	7.0E-06	2
rs759075595	NPC1	0.925	0.160	18	23568933	frameshift variant	CT/-	delins	8.0E-06		2
rs780592540	NPC1	0.925	0.160	18	23539936	stop gained	G/A;C	snv	4.0E-06; 8.0E-06		2
rs774943545	NPC1	0.925	0.160	18	23533364	frameshift variant	GAGT/-	delins	3.2E-05	2.1E-05	2
rs797044431	NPC1	0.925	0.160	18	23536878	splice acceptor variant	T/-	del			2
rs113371321	NPC1			18	23534477	missense variant	G/A;C	snv	1.2E-04		1
rs1057518942	NPC1	1.000	0.160	18	23544424	missense variant	G/A	snv			1
rs80358253	NPC1	0.925	0.160	18	23541355	missense variant	T/G	snv	8.0E-06		1
rs377130051	NPC1	1.000	0.160	18	23545088	stop gained	G/A;T	snv	2.0E-05		1
rs80358258	NPC1	0.925	0.160	18	23536758	missense variant	C/T	snv	8.0E-06		1
rs372947142	NPC1	1.000	0.160	18	23568876	missense variant	G/A	snv	8.0E-06	7.0E-06	1
rs1555632971	NPC1	1.000	0.160	18	23538609	missense variant	CC/AT	mnv			1
rs1057516813	NPC1	1.000	0.160	18	23554985	splice acceptor variant	C/G;T	snv			1
rs28942105	NPC1	1.000	0.160	18	23535479	missense variant	T/A;C	snv	2.0E-05	1.4E-05	1