DisGeNET - a database of gene-disease associations

List of associated variants

Parkinsonian Disorders, C0242422

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
rs113994097	POLG	0.724	0.400	15	89323426	missense variant	C/G	snv	9.7E-04	7.9E-04	22
rs143624519	MAPT	0.724	0.240	17	45991484	missense variant	G/A;T	snv	1.5E-03; 1.2E-05		17
rs104893878	SNCA ; SNCA-AS1	0.732	0.160	4	89835580	missense variant	C/G	snv			21
rs5569	SLC6A2	0.742	0.280	16	55697923	synonymous variant	G/A;C	snv	0.31; 4.0E-06		19
rs34778348	LRRK2 ; LOC105369736	0.742	0.120	12	40363526	missense variant	G/A	snv	1.7E-03	5.8E-04	15
rs367543041	TARDBP	0.742	0.200	1	11022553	missense variant	G/A;C	snv	3.0E-05		15
rs104893875	SNCA	0.742	0.120	4	89828170	missense variant	C/T	snv	4.0E-06		13
rs4606	RGS2	0.752	0.120	1	192812042	3 prime UTR variant	C/G;T	snv			16
rs242557	MAPT	0.752	0.200	17	45942346	intron variant	G/A	snv		0.36	12
rs2230288	GBA	0.776	0.160	1	155236376	missense variant	C/T	snv	1.0E-02	1.0E-02	18
rs63751438	MAPT	0.776	0.120	17	46010388	missense variant	C/T	snv			16
rs188286943	VPS35	0.776	0.160	16	46662452	missense variant	C/T	snv			9
rs63750590	PSEN1	0.790	0.120	14	73186860	missense variant	A/G	snv			10
rs767543900	MAPT	0.790	0.120	17	45971879	missense variant	A/C;G	snv	4.0E-06		10
rs774005786	PARK7	0.790	0.080	1	7970951	missense variant	G/A;T	snv	3.9E-04; 2.0E-05		8
rs1555507479	GNAO1	0.807	0.160	16	56336799	missense variant	C/A	snv			12
rs398122403	SYNJ1	0.807	0.080	21	32695106	missense variant	C/T	snv	1.2E-05		11
rs112176450	EIF4G1	0.807	0.080	3	184327401	missense variant	G/A;T	snv	2.1E-04	2.8E-04	7
rs34995376	LRRK2	0.807	0.080	12	40310435	missense variant	G/A	snv		7.0E-06	7
rs113994099	POLG	0.827	0.240	15	89320883	missense variant	T/C	snv			10
rs63750522	PSEN1	0.827	0.120	14	73173644	missense variant	G/A;C	snv			8
rs63750577	PSEN1	0.827	0.120	14	73186881	missense variant	C/T	snv			8
rs35801418	LRRK2	0.827	0.120	12	40321114	missense variant	A/G	snv			7
rs387907571	DNAJC13	0.827	0.080	3	132477995	missense variant	A/G	snv	4.2E-06	3.5E-05	6
rs34015634	LRRK2	0.851	0.120	12	40340380	missense variant	T/C	snv	3.2E-05	1.4E-05	8