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
rs113388242	EIF4G1	0.925	0.080	3	184327376	missense variant	C/T	snv	4.0E-05	7.0E-05	3
rs774457232	EIF4G1	0.925	0.080	3	184331303	missense variant	G/A;T	snv	6.4E-05		3
rs104893877	SNCA	0.614	0.360	4	89828149	missense variant	C/T	snv			59
rs104893878	SNCA ; SNCA-AS1	0.732	0.160	4	89835580	missense variant	C/G	snv			21
rs104893875	SNCA	0.742	0.120	4	89828170	missense variant	C/T	snv	4.0E-06		13
rs542171324	SNCA	0.851	0.160	4	89828148	missense variant	G/A;C	snv	8.0E-06; 4.0E-06		6
rs201106962	SNCA	0.851	0.080	4	89828156	missense variant	A/C	snv	8.0E-05	7.0E-05	5
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
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs2032582	ABCB1	0.538	0.800	7	87531302	missense variant	A/C;T	snv	0.54; 3.8E-02		97
rs781652026	TWNK			10	100989789	missense variant	G/A;T	snv	4.0E-06		1
rs121917763	TH	0.925	0.040	11	2167896	missense variant	A/G	snv	1.2E-05	7.0E-06	5
rs80338892	TH	1.000	0.040	11	2167905	missense variant	C/T	snv	1.1E-04	1.4E-04	3
rs748705829	SIRT3			11	233109	missense variant	T/C	snv	8.0E-06		1
rs34637584	LRRK2	0.583	0.480	12	40340400	missense variant	G/A	snv	5.3E-04	3.6E-04	78
rs33939927	LRRK2	0.708	0.120	12	40310434	missense variant	C/A;G;T	snv	4.0E-06; 1.2E-05		24
rs34778348	LRRK2 ; LOC105369736	0.742	0.120	12	40363526	missense variant	G/A	snv	1.7E-03	5.8E-04	15
rs34015634	LRRK2	0.851	0.120	12	40340380	missense variant	T/C	snv	3.2E-05	1.4E-05	8
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
rs1224426272	CIT	0.925	0.040	12	119869138	missense variant	C/T	snv			6
rs12817488	CCDC62	1.000	0.040	12	122811747	intron variant	G/A	snv		0.39	3
rs111501952	LRRK2	1.000	0.040	12	40310461	missense variant	G/A	snv	4.4E-05	7.7E-05	2
rs63750590	PSEN1	0.790	0.120	14	73186860	missense variant	A/G	snv			10