DisGeNET - a database of gene-disease associations

List of associated variants

Niemann-Pick Disease, Type B, C0268243

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
rs120074125	SMPD1	0.882	0.160	11	6393301	missense variant	T/G	snv	4.0E-06		7
rs120074117	SMPD1	0.882	0.160	11	6394204	missense variant	G/A;C;T	snv	1.2E-05; 4.0E-06; 1.4E-04		5
rs120074124	SMPD1	0.882	0.160	11	6391976	missense variant	T/C	snv	1.6E-05	3.5E-05	4
rs120074118	SMPD1	0.925	0.160	11	6394537	inframe deletion	GCC/-	delins			3
rs120074121	SMPD1	0.925	0.160	11	6393276	missense variant	G/A	snv			3
rs120074126	SMPD1	0.925	0.160	11	6393620	missense variant	C/T	snv		7.0E-06	3
rs120074128	SMPD1	0.882	0.160	11	6391945	missense variant	C/A	snv	8.0E-06	7.0E-06	3
rs182812968	SMPD1	0.925	0.160	11	6393981	missense variant	C/T	snv	1.6E-05	4.2E-05	3
rs370129081	SMPD1	0.925	0.160	11	6394516	missense variant	G/A	snv	1.6E-05	7.0E-06	3
rs387906289	SMPD1	0.925	0.160	11	6392056	frameshift variant	C/-	delins			3
rs398123478	SMPD1	0.925	0.160	11	6394335	stop gained	C/T	snv	6.4E-05	7.0E-06	3
rs587779408	SMPD1	0.882	0.160	11	6391804	missense variant	G/A	snv	2.4E-05	2.8E-05	3
rs750779804	SMPD1	0.925	0.160	11	6391813	missense variant	A/C	snv	8.0E-06		3
rs753508874	SMPD1	0.925	0.160	11	6393985	missense variant	C/A;T	snv	2.0E-05		3
rs797044798	SMPD1	0.925	0.160	11	6391657	missense variant	G/C	snv	4.9E-06		3
rs797044800	SMPD1	0.925	0.160	11	6392141	missense variant	C/A	snv			3
rs989639224	SMPD1	0.882	0.160	11	6391753	missense variant	C/A;T	snv	4.1E-06; 4.1E-06		3
rs1057517195	SMPD1	0.925	0.160	11	6391622	missense variant	C/T	snv	2.4E-05	3.5E-05	2
rs120074122	SMPD1	0.925	0.160	11	6391795	stop gained	G/A;T	snv	2.8E-05		2
rs120074127	SMPD1	0.925	0.160	11	6393680	stop gained	C/G;T	snv	5.6E-05; 1.6E-05		2
rs1554934193	SMPD1	0.925	0.160	11	6391574	stop gained	G/A	snv			2
rs1554935555	SMPD1	0.925	0.160	11	6394314	missense variant	T/C	snv			2
rs200763423	SMPD1	0.925	0.160	11	6391807	stop gained	G/A;C;T	snv	4.0E-06		2
rs267607073	SMPD1	1.000	0.160	11	6393667	missense variant	C/A	snv			2
rs398123479	SMPD1	0.925	0.160	11	6391822	missense variant	G/C	snv	1.6E-05		2