PRKN, parkin RBR E3 ubiquitin protein ligase, 5071

N. diseases: 42; N. variants: 45
Source: CURATED ×
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: rs2077934
rs2077934 		0.925 0.040 6 162636237 intron variant T/A;C snv
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs9355371
rs9355371 		0.925 0.040 6 161900345 intron variant A/G;T snv
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs13191362
rs13191362 		6 162612318 intron variant A/G snv 8.7E-02
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 6 2015 2019
dbSNP: rs36007635
rs36007635 		6 162588303 intron variant G/A snv 0.10
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs34424986
rs34424986 		0.752 0.200 6 161785820 missense variant G/A;T snv 1.9E-03; 8.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.720 0.500 0 2015 2020
dbSNP: rs12175475
rs12175475 		1.000 0.120 6 162250424 intron variant A/T snv 2.1E-02
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs926849
rs926849 		1.000 0.040 6 161740587 intron variant C/T snv 0.67
CUI: C0158266
Disease: Intervertebral Disc Degeneration
Intervertebral Disc Degeneration 		Musculoskeletal Diseases 0.800 1.000 1 2013 2013
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: rs7769089
rs7769089 		6 161726695 intron variant A/T snv 0.26
CUI: C1096202
Disease: Lipoprotein (a) measurement
Lipoprotein (a) measurement 		0.700 1.000 1 2015 2015
dbSNP: rs992037
rs992037 		6 161580404 intron variant T/C snv 0.71
CUI: C0523760
Disease: Lysine measurement
Lysine measurement 		0.700 1.000 1 2008 2008
dbSNP: rs2023016
rs2023016 		6 162560234 intron variant C/A;G snv 0.18
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
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: 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: 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: 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: 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 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