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
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
rs113994099	POLG	0.827	0.240	15	89320883	missense variant	T/C	snv			10
rs1224426272	CIT	0.925	0.040	12	119869138	missense variant	C/T	snv			6
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
rs1289324472	GBA	0.716	0.400	1	155236354	missense variant	T/C	snv		1.4E-05	21
rs188286943	VPS35	0.776	0.160	16	46662452	missense variant	C/T	snv			9
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
rs2942168	LINC02210-CRHR1 ; LINC02210	0.925	0.120	17	45637484	non coding transcript exon variant	G/A;C;T	snv		0.14	4
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
rs542171324	SNCA	0.851	0.160	4	89828148	missense variant	G/A;C	snv	8.0E-06; 4.0E-06		6
rs104893875	SNCA	0.742	0.120	4	89828170	missense variant	C/T	snv	4.0E-06		13
rs121918304	FBXO7	0.925	0.080	22	32498453	stop gained	C/A;T	snv	4.0E-06; 4.0E-06		4
rs1290141855	SLC6A2	1.000	0.040	16	55698539	missense variant	T/C	snv	4.0E-06	7.0E-06	3
rs767543900	MAPT	0.790	0.120	17	45971879	missense variant	A/C;G	snv	4.0E-06		10
rs5569	SLC6A2	0.742	0.280	16	55697923	synonymous variant	G/A;C	snv	0.31; 4.0E-06		19
rs74315356	PINK1-AS ; PINK1	0.925	0.040	1	20649054	stop gained	G/A	snv	4.0E-06	1.4E-05	3
rs33939927	LRRK2	0.708	0.120	12	40310434	missense variant	C/A;G;T	snv	4.0E-06; 1.2E-05		24
rs387907571	DNAJC13	0.827	0.080	3	132477995	missense variant	A/G	snv	4.2E-06	3.5E-05	6
rs421016	GBA	0.683	0.440	1	155235252	missense variant	A/C;G	snv	8.0E-06; 1.3E-03		30
rs143624519	MAPT	0.724	0.240	17	45991484	missense variant	G/A;T	snv	1.5E-03; 1.2E-05		17
rs762472005	SACM1L	0.851	0.040	3	45722873	missense variant	G/A	snv	1.2E-05	7.0E-06	5