DisGeNET - a database of gene-disease associations

List of associated variants

Parkinson Disease, C0030567

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs76763715	GBA	0.658	0.520	1	155235843	missense variant	T/C;G	snv	2.3E-03		35
rs421016	GBA	0.683	0.440	1	155235252	missense variant	A/C;G	snv	8.0E-06; 1.3E-03		30
rs646776	CELSR2	0.752	0.240	1	109275908	downstream gene variant	C/T	snv		0.74	25
rs1289324472	GBA	0.716	0.400	1	155236354	missense variant	T/C	snv		1.4E-05	21
rs2230288	GBA	0.776	0.160	1	155236376	missense variant	C/T	snv	1.0E-02	1.0E-02	18
rs367543041	TARDBP	0.742	0.200	1	11022553	missense variant	G/A;C	snv	3.0E-05		15
rs5174	LRP8	0.776	0.240	1	53247055	missense variant	C/T	snv	0.29	0.28	10
rs75822236	GBA	0.752	0.200	1	155235002	missense variant	C/T	snv	1.8E-04	6.1E-05	10
rs387906315	GBA	0.790	0.160	1	155240660	frameshift variant	-/C	delins	5.2E-05	5.6E-05	8
rs6656401	CR1	0.776	0.200	1	207518704	intron variant	A/G;T	snv			8
rs760077	MTX1 ; THBS3	0.925	0.120	1	155208991	missense variant	T/A	snv		0.36	8
rs774005786	PARK7	0.790	0.080	1	7970951	missense variant	G/A;T	snv	3.9E-04; 2.0E-05		8
rs2295633	FAAH	0.827	0.120	1	46408711	intron variant	A/G;T	snv			7
rs28938172	PARK7	0.790	0.080	1	7984981	missense variant	T/C	snv			7
rs74315355	PINK1 ; PINK1-AS	0.790	0.080	1	20644639	missense variant	G/A	snv			7
rs74315351	PARK7	0.807	0.080	1	7962863	missense variant	G/A	snv			6
rs74315352	PARK7	0.807	0.080	1	7984930	missense variant	A/C	snv	1.4E-04	5.9E-04	6
rs75548401	GBA	0.882	0.160	1	155236246	missense variant	G/A	snv	5.9E-03	6.2E-03	6
rs2990245	GBAP1	0.827	0.240	1	155227671	upstream gene variant	C/G;T	snv			5
rs45539432	PINK1-AS ; PINK1	0.851	0.040	1	20649109	stop gained	C/T	snv	4.0E-05	3.5E-05	5