PRKN, parkin RBR E3 ubiquitin protein ligase, 5071

N. diseases: 409; N. variants: 88
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137853054
rs137853054 		0.882 0.160 6 161973317 missense variant G/A;C;T snv 3.7E-04; 4.0E-06; 8.0E-06
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs137853056
rs137853056 		1.000 0.040 6 161350139 stop gained C/T snv
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		Nervous System Diseases 0.700 0
dbSNP: rs1562485799
rs1562485799 		1.000 0.040 6 162054149 stop gained A/C snv
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		Nervous System Diseases 0.700 0
dbSNP: rs34424986
rs34424986 		0.752 0.200 6 161785820 missense variant G/A;T snv 1.9E-03; 8.0E-06
CUI: C1843632
Disease: LEPROSY, SUSCEPTIBILITY TO, 2
LEPROSY, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs34424986
rs34424986 		0.752 0.200 6 161785820 missense variant G/A;T snv 1.9E-03; 8.0E-06
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs397518439
rs397518439 		1.000 0.040 6 162727661 splice donor variant C/A;G snv
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		Nervous System Diseases 0.700 0
dbSNP: rs55961220
rs55961220 		1.000 0.040 6 161785778 missense variant A/C snv
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		Nervous System Diseases 0.700 0
dbSNP: rs747427602
rs747427602 		1.000 6 161785885 missense variant C/A;T snv 1.6E-05
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.700 0
dbSNP: rs34424986
rs34424986 		0.752 0.200 6 161785820 missense variant G/A;T snv 1.9E-03; 8.0E-06
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		Nervous System Diseases 0.800 1.000 33 1998 2015
dbSNP: rs137853054
rs137853054 		0.882 0.160 6 161973317 missense variant G/A;C;T snv 3.7E-04; 4.0E-06; 8.0E-06
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		Nervous System Diseases 0.800 1.000 32 1998 2015
dbSNP: rs368134308
rs368134308 		0.882 0.040 6 162443356 missense variant C/A;G;T snv 3.2E-05; 2.6E-04
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		Nervous System Diseases 0.720 1.000 23 1998 2013
dbSNP: rs137853057
rs137853057 		1.000 0.040 6 162201182 missense variant T/A snv
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		Nervous System Diseases 0.800 1.000 21 1998 2013
dbSNP: rs137853058
rs137853058 		0.882 0.120 6 161973401 missense variant C/T snv 1.2E-05
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		Nervous System Diseases 0.800 1.000 21 1998 2013
dbSNP: rs137853059
rs137853059 		1.000 0.040 6 162443314 missense variant A/T snv 1.6E-05 2.1E-05
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		Nervous System Diseases 0.700 1.000 21 1998 2013
dbSNP: rs137853060
rs137853060 		1.000 0.040 6 161973403 missense variant T/A snv 2.0E-05
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		Nervous System Diseases 0.800 1.000 21 1998 2013
dbSNP: rs149953814
rs149953814 		1.000 0.040 6 161350187 missense variant G/A snv 1.6E-03 2.2E-03
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		Nervous System Diseases 0.700 1.000 21 1998 2013
dbSNP: rs397514694
rs397514694 		1.000 0.040 6 161350205 missense variant C/A snv
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		Nervous System Diseases 0.800 1.000 21 1998 2013
dbSNP: rs55774500
rs55774500 		1.000 0.040 6 162262692 missense variant G/A;T snv 8.0E-06; 3.6E-03
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		Nervous System Diseases 0.800 1.000 21 1998 2013
dbSNP: rs55830907
rs55830907 		1.000 0.040 6 161360169 missense variant G/A snv 1.9E-03 1.9E-03
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		Nervous System Diseases 0.700 1.000 21 1998 2013
dbSNP: rs148990138
rs148990138 		1.000 0.040 6 162443371 missense variant G/A snv 1.9E-04 2.4E-04
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		Nervous System Diseases 0.700 1.000 20 1998 2011
dbSNP: rs150562946
rs150562946 		0.882 0.040 6 161785877 missense variant G/A snv 4.2E-04 4.5E-04
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		Nervous System Diseases 0.700 1.000 20 1998 2011
dbSNP: rs532703934
rs532703934 		1.000 0.040 6 162443438 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		Nervous System Diseases 0.700 1.000 20 1998 2011
dbSNP: rs566229879
rs566229879 		1.000 0.040 6 162262662 missense variant G/A snv 1.2E-05
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		Nervous System Diseases 0.700 1.000 20 1998 2011
dbSNP: rs778125254
rs778125254 		1.000 0.040 6 161360129 missense variant G/T snv 8.0E-06
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		Nervous System Diseases 0.700 1.000 20 1998 2011
dbSNP: rs778305273
rs778305273 		1.000 0.040 6 161350176 missense variant A/G snv 5.2E-05
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		Nervous System Diseases 0.700 1.000 20 1998 2011