DisGeNET - a database of gene-disease associations

List of associated variants

Young onset Parkinson disease, C4275179

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
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
rs104893878	SNCA ; SNCA-AS1	0.732	0.160	4	89835580	missense variant	C/G	snv			21
rs1064793345	PTEN	0.752	0.240	10	87961039	missense variant	T/C	snv			11
rs1171614044	PLA2G6 ; BAIAP2L2	1.000	0.040	22	38112243	missense variant	T/C;G	snv			1
rs1189803871	PRKN	1.000	0.040	6	161548929	synonymous variant	G/A;C	snv	4.0E-06		1
rs1345514	EN2	1.000	0.040	7	155456455	intron variant	C/T	snv		0.29	1
rs137853054	PRKN	0.882	0.160	6	161973317	missense variant	G/A;C;T	snv	3.7E-04; 4.0E-06; 8.0E-06		4
rs139093920	BAIAP2L2 ; PLA2G6	1.000	0.040	22	38112241	missense variant	C/T	snv	8.0E-06	2.8E-05	1
rs150562946	PRKN	0.882	0.040	6	161785877	missense variant	G/A	snv	4.2E-04	4.5E-04	3
rs1801334	PRKN	0.851	0.040	6	161360193	missense variant	C/T	snv	2.5E-02	2.5E-02	4
rs199935023	PLA2G6	0.882	0.040	22	38132917	missense variant	C/A;T	snv	4.9E-05; 3.6E-05		4
rs2281983	PITX3	0.851	0.080	10	102231624	missense variant	G/A;C;T	snv	0.62; 8.3E-06		4
rs28938172	PARK7	0.790	0.080	1	7984981	missense variant	T/C	snv			7
rs34424986	PRKN	0.752	0.200	6	161785820	missense variant	G/A;T	snv	1.9E-03; 8.0E-06		10
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
rs3738136	PINK1 ; PINK1-AS	0.882	0.040	1	20645618	missense variant	G/A	snv	9.2E-02	5.0E-02	3
rs3758549	GBF1	0.882	0.040	10	102244438	upstream gene variant	G/A	snv		0.14	3
rs3808330	EN2	1.000	0.040	7	155463312	3 prime UTR variant	T/C	snv		0.23	1
rs398122403	SYNJ1	0.807	0.080	21	32695106	missense variant	C/T	snv	1.2E-05		11
rs431905511	SNCA	0.827	0.080	4	89828154	missense variant	C/T	snv			9
rs45539432	PINK1-AS ; PINK1	0.851	0.040	1	20649109	stop gained	C/T	snv	4.0E-05	3.5E-05	5
rs4919621	PITX3	0.851	0.080	10	102238914	intron variant	A/T	snv		0.66	4
rs72480423	PRKN	0.925	0.040	6	161569358	missense variant	C/G;T	snv	1.3E-04		2