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: 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: 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: rs754809877
rs754809877 		1.000 0.040 6 162443326 frameshift variant T/- delins 3.1E-04
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		Nervous System Diseases 0.700 1.000 11 1999 2016
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: rs1562430103
rs1562430103 		1.000 0.040 6 161973301 splice donor variant C/T snv
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		Nervous System Diseases 0.700 1.000 2 1999 2012
dbSNP: rs11759064
rs11759064 		1.000 0.080 6 162379633 intron variant C/T snv 0.22
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2017 2017
dbSNP: rs117673608
rs117673608 		1.000 0.040 6 161931643 intron variant G/A snv 1.3E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2017 2017
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: rs13191362
rs13191362 		6 162612318 intron variant A/G snv 8.7E-02
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs13191362
rs13191362 		6 162612318 intron variant A/G snv 8.7E-02
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs140594067
rs140594067 		6 161689529 intron variant G/A snv 9.8E-05
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs146167165
rs146167165 		6 162633261 intron variant C/T snv 1.5E-02
CUI: C0043094
Disease: Weight Gain
Weight Gain 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019
dbSNP: rs146977322
rs146977322 		6 161699571 intron variant C/A snv
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
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: rs2077934
rs2077934 		0.925 0.040 6 162636237 intron variant T/A;C snv
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
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: rs3016551
rs3016551 		6 161800688 intron variant A/G snv 0.42
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
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: 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: 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: 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: rs9355371
rs9355371 		0.925 0.040 6 161900345 intron variant A/G;T snv
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
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: rs992037
rs992037 		6 161580404 intron variant T/C snv 0.71
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2008 2008
dbSNP: rs137853055
rs137853055 		1.000 0.040 6 161569357 stop gained G/A snv
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		Nervous System Diseases 0.710 1.000 0 1998 1998