DisGeNET - a database of gene-disease associations

List of associated variants

Hallervorden-Spatz Syndrome, C0018523

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
rs137852959	MIR103B2 ; PANK2	0.790	0.160	20	3918695	missense variant	G/A	snv	8.7E-05	2.3E-04	9
rs137852968	MIR103A2 ; PANK2	0.925	0.080	20	3916955	stop gained	C/A;T	snv	4.0E-06; 1.2E-05; 3.6E-05		3
rs137852967	MIR103B2 ; PANK2	0.882	0.080	20	3918717	missense variant	C/T	snv	1.2E-05	2.1E-05	3
rs752078407	PANK2	1.000	0.080	20	3910806	missense variant	A/T	snv	6.4E-05	3.5E-05	3
rs148987163	MIR103A2 ; PANK2	0.925	0.080	20	3916926	splice acceptor variant	G/T	snv	1.6E-05	7.1E-06	2
rs137852964	PANK2	0.925	0.080	20	3910646	missense variant	T/C	snv			2
rs137852965	PANK2	0.925	0.080	20	3907997	missense variant	A/G	snv	1.6E-05	7.0E-06	2
rs137852966	PANK2	0.925	0.080	20	3908129	missense variant	C/T	snv	8.0E-06		2
rs1555789557	MIR103A2 ; PANK2	1.000	0.080	20	3916940	frameshift variant	ATGA/-	del			1
rs766251466	MIR103A2 ; PANK2	1.000	0.080	20	3916956	inframe deletion	GAG/-	del		2.8E-05	1
rs775459398	MIR103B2 ; MIR103A2 ; PANK2	1.000	0.080	20	3917016	missense variant	T/A;C	snv	4.0E-06		1
rs759332123	MIR103B2 ; PANK2 ; MIR103A2	1.000	0.080	20	3917013	missense variant	A/T	snv	4.0E-06		1
rs767653843	MIR103B2 ; PANK2 ; MIR103A2	1.000	0.080	20	3917045	missense variant	A/G	snv	8.0E-06	2.1E-05	1
rs1012947103	PANK2	1.000	0.080	20	3912505	missense variant	G/A	snv		7.0E-06	1
rs1131692166	PANK2	1.000	0.080	20	3923334	3 prime UTR variant	G/C	snv			1
rs1135401789	PANK2	1.000	0.080	20	3910831	splice donor variant	G/C;T	snv	4.0E-06		1
rs1261714833	PANK2	1.000	0.080	20	3912456	splice acceptor variant	A/C	snv			1
rs1324077575	PANK2	1.000	0.080	20	3923269	missense variant	T/C	snv		7.0E-06	1
rs1348762206	PANK2	1.000	0.080	20	3908130	missense variant	G/A;T	snv	4.0E-06		1
rs137852961	PANK2	1.000	0.080	20	3908087	missense variant	C/T	snv	8.0E-06	7.0E-06	1
rs137852962	PANK2	1.000	0.080	20	3908153	missense variant	C/T	snv	8.0E-06	7.0E-06	1
rs137852963	PANK2	1.000	0.080	20	3912634	missense variant	G/A	snv			1
rs1555787646	PANK2	1.000	0.080	20	3907977	missense variant	A/G	snv			1
rs1555787799	PANK2	1.000	0.080	20	3908233	stop gained	T/A	snv			1
rs1555788619	PANK2	1.000	0.080	20	3912471	frameshift variant	-/CT	delins			1