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
rs1555507479	GNAO1	0.807	0.160	16	56336799	missense variant	C/A	snv			12
rs1555727942	NOTCH3 ; MIR6795	0.925	0.160	19	15180807	missense variant	G/A	snv			3
rs188286943	VPS35	0.776	0.160	16	46662452	missense variant	C/T	snv			9
rs201106962	SNCA	0.851	0.080	4	89828156	missense variant	A/C	snv	8.0E-05	7.0E-05	5
rs2032582	ABCB1	0.538	0.800	7	87531302	missense variant	A/C;T	snv	0.54; 3.8E-02		97
rs2230288	GBA	0.776	0.160	1	155236376	missense variant	C/T	snv	1.0E-02	1.0E-02	18
rs2421947	DNM3-IT1 ; DNM3	1.000	0.040	1	171863954	intron variant	C/G;T	snv			2
rs242557	MAPT	0.752	0.200	17	45942346	intron variant	G/A	snv		0.36	12
rs267604921	MAPT	0.925	0.160	17	45993953	missense variant	C/A;G;T	snv	6.3E-05; 2.5E-04; 5.3E-06		3
rs28940285	PINK1-AS ; PINK1	1.000	0.040	1	20645640	missense variant	T/C	snv	1.6E-05	3.5E-05	2
rs2942168	LINC02210-CRHR1 ; LINC02210	0.925	0.120	17	45637484	non coding transcript exon variant	G/A;C;T	snv		0.14	4
rs3135500	NOD2	0.851	0.160	16	50732975	3 prime UTR variant	G/A	snv		0.44	5
rs33939927	LRRK2	0.708	0.120	12	40310434	missense variant	C/A;G;T	snv	4.0E-06; 1.2E-05		24
rs34015634	LRRK2	0.851	0.120	12	40340380	missense variant	T/C	snv	3.2E-05	1.4E-05	8
rs34637584	LRRK2	0.583	0.480	12	40340400	missense variant	G/A	snv	5.3E-04	3.6E-04	78
rs34778348	LRRK2 ; LOC105369736	0.742	0.120	12	40363526	missense variant	G/A	snv	1.7E-03	5.8E-04	15
rs34995376	LRRK2	0.807	0.080	12	40310435	missense variant	G/A	snv		7.0E-06	7
rs35801418	LRRK2	0.827	0.120	12	40321114	missense variant	A/G	snv			7
rs367543041	TARDBP	0.742	0.200	1	11022553	missense variant	G/A;C	snv	3.0E-05		15
rs368134308	PRKN	0.882	0.040	6	162443356	missense variant	C/A;G;T	snv	3.2E-05; 2.6E-04		4
rs369634041	PRKN			6	162262647	missense variant	C/A;T	snv	4.0E-06; 2.0E-05		3
rs387907571	DNAJC13	0.827	0.080	3	132477995	missense variant	A/G	snv	4.2E-06	3.5E-05	6
rs398122403	SYNJ1	0.807	0.080	21	32695106	missense variant	C/T	snv	1.2E-05		11
rs41311141	FBXO7			22	32484019	synonymous variant	A/G;T	snv	3.4E-02		1
rs41549716	POLG	0.882	0.200	15	89321842	missense variant	T/C	snv	6.6E-03	7.0E-03	4