DisGeNET - a database of gene-disease associations

List of shared variants

Parkinsonian Disorders, C0242422

Disease: Parkinson Disease

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
rs201106962	SNCA	0.851	0.080	4	89828156	missense variant	A/C	snv	8.0E-05	7.0E-05	5
rs421016	GBA	0.683	0.440	1	155235252	missense variant	A/C;G	snv	8.0E-06; 1.3E-03		30
rs767543900	MAPT	0.790	0.120	17	45971879	missense variant	A/C;G	snv	4.0E-06		10
rs2032582	ABCB1	0.538	0.800	7	87531302	missense variant	A/C;T	snv	0.54; 3.8E-02		97
rs121917763	TH	0.925	0.040	11	2167896	missense variant	A/G	snv	1.2E-05	7.0E-06	5
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
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs33939927	LRRK2	0.708	0.120	12	40310434	missense variant	C/A;G;T	snv	4.0E-06; 1.2E-05		24
rs368134308	PRKN	0.882	0.040	6	162443356	missense variant	C/A;G;T	snv	3.2E-05; 2.6E-04		4
rs121918304	FBXO7	0.925	0.080	22	32498453	stop gained	C/A;T	snv	4.0E-06; 4.0E-06		4
rs104893878	SNCA ; SNCA-AS1	0.732	0.160	4	89835580	missense variant	C/G	snv			21
rs2421947	DNM3-IT1 ; DNM3	1.000	0.040	1	171863954	intron variant	C/G;T	snv			2
rs104893875	SNCA	0.742	0.120	4	89828170	missense variant	C/T	snv	4.0E-06		13
rs104893877	SNCA	0.614	0.360	4	89828149	missense variant	C/T	snv			59
rs1224426272	CIT	0.925	0.040	12	119869138	missense variant	C/T	snv			6
rs188286943	VPS35	0.776	0.160	16	46662452	missense variant	C/T	snv			9
rs2230288	GBA	0.776	0.160	1	155236376	missense variant	C/T	snv	1.0E-02	1.0E-02	18
rs45539432	PINK1-AS ; PINK1	0.851	0.040	1	20649109	stop gained	C/T	snv	4.0E-05	3.5E-05	5
rs111501952	LRRK2	1.000	0.040	12	40310461	missense variant	G/A	snv	4.4E-05	7.7E-05	2
rs1239756674	MAOA	1.000	0.040	X	43743818	synonymous variant	G/A	snv			2
rs12817488	CCDC62	1.000	0.040	12	122811747	intron variant	G/A	snv		0.39	3
rs242557	MAPT	0.752	0.200	17	45942346	intron variant	G/A	snv		0.36	12
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