DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE ×

Variants associated to the Gene: PRKN ×

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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
rs34424986	PRKN	0.752	0.200	6	161785820	missense variant	G/A;T	snv	1.9E-03; 8.0E-06		10
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
rs368134308	PRKN	0.882	0.040	6	162443356	missense variant	C/A;G;T	snv	3.2E-05; 2.6E-04		4
rs137853058	PRKN	0.882	0.120	6	161973401	missense variant	C/T	snv	1.2E-05		3
rs150562946	PRKN	0.882	0.040	6	161785877	missense variant	G/A	snv	4.2E-04	4.5E-04	3
rs751037529	PRKN	0.925	0.040	6	161785793	missense variant	C/G	snv	1.2E-05		3
rs147757966	PRKN	0.925	0.040	6	162443383	missense variant	C/A;G;T	snv	4.0E-06; 8.8E-05		2
rs397518439	PACRG ; PRKN	1.000	0.040	6	162727661	splice donor variant	C/A;G	snv			1
rs137853055	PRKN	1.000	0.040	6	161569357	stop gained	G/A	snv			1
rs137853056	PRKN	1.000	0.040	6	161350139	stop gained	C/T	snv			1
rs137853057	PRKN	1.000	0.040	6	162201182	missense variant	T/A	snv			1
rs137853059	PRKN	1.000	0.040	6	162443314	missense variant	A/T	snv	1.6E-05	2.1E-05	1
rs137853060	PRKN	1.000	0.040	6	161973403	missense variant	T/A	snv	2.0E-05		1
rs148990138	PRKN	1.000	0.040	6	162443371	missense variant	G/A	snv	1.9E-04	2.4E-04	1
rs149953814	PRKN	1.000	0.040	6	161350187	missense variant	G/A	snv	1.6E-03	2.2E-03	1
rs1562430103	PRKN	1.000	0.040	6	161973301	splice donor variant	C/T	snv			1
rs1562485799	PRKN	1.000	0.040	6	162054149	stop gained	A/C	snv			1
rs191486604	PRKN	1.000	0.040	6	161350208	missense variant	C/T	snv	6.0E-05	1.3E-04	1
rs397514694	PRKN	1.000	0.040	6	161350205	missense variant	C/A	snv			1
rs532703934	PRKN	1.000	0.040	6	162443438	missense variant	C/A;T	snv	4.0E-06; 4.0E-06		1
rs55774500	PRKN	1.000	0.040	6	162262692	missense variant	G/A;T	snv	8.0E-06; 3.6E-03		1
rs55830907	PRKN	1.000	0.040	6	161360169	missense variant	G/A	snv	1.9E-03	1.9E-03	1
rs55961220	PRKN	1.000	0.040	6	161785778	missense variant	A/C	snv			1
rs566229879	PRKN	1.000	0.040	6	162262662	missense variant	G/A	snv	1.2E-05		1
rs754809877	PRKN	1.000	0.040	6	162443326	frameshift variant	T/-	delins		3.1E-04	1