Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs9347683
rs9347683
PRKN ; PACRG
0.882 0.120 6 162728023 5 prime UTR variant A/C;G snv
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.020 1.000 2 2007 2011
dbSNP: rs9347683
rs9347683
PRKN ; PACRG
0.882 0.120 6 162728023 5 prime UTR variant A/C;G snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.020 1.000 2 2009 2011
dbSNP: rs9347683
rs9347683
PRKN ; PACRG
0.882 0.120 6 162728023 5 prime UTR variant A/C;G snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs1330260959
rs1330260959
PRKN
1.000 0.040 6 161569370 missense variant A/C;T snv 4.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 2014 2014
dbSNP: rs9689649
rs9689649
PRKN
1.000 0.080 6 161680146 intron variant A/C;T snv
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		0.010 1.000 1 2016 2016
dbSNP: rs1784594
rs1784594
PRKN
1.000 0.080 6 161961702 intron variant A/G snv 0.40
CUI: C2314896
Disease: Familial Atypical Mole Melanoma Syndrome
Familial Atypical Mole Melanoma Syndrome 		0.010 1.000 1 2013 2013
dbSNP: rs539815495
rs539815495
PRKN
6 161973365 missense variant A/G snv 1.1E-04 1.4E-05
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.010 1.000 1 2019 2019
dbSNP: rs577876
rs577876
PRKN
0.851 0.080 6 161502123 intron variant A/G snv 0.38
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.010 1.000 1 2016 2016
dbSNP: rs577876
rs577876
PRKN
0.851 0.080 6 161502123 intron variant A/G snv 0.38
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2016 2016
dbSNP: rs577876
rs577876
PRKN
0.851 0.080 6 161502123 intron variant A/G snv 0.38
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2016 2016
dbSNP: rs577876
rs577876
PRKN
0.851 0.080 6 161502123 intron variant A/G snv 0.38
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2016 2016
dbSNP: rs368134308
rs368134308
PRKN
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 		0.720 1.000 2 1998 2013
dbSNP: rs147757966
rs147757966
PRKN
0.925 0.040 6 162443383 missense variant C/A;G;T snv 4.0E-06; 8.8E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 2016 2016
dbSNP: rs368134308
rs368134308
PRKN
0.882 0.040 6 162443356 missense variant C/A;G;T snv 3.2E-05; 2.6E-04
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 2006 2006
dbSNP: rs368134308
rs368134308
PRKN
0.882 0.040 6 162443356 missense variant C/A;G;T snv 3.2E-05; 2.6E-04
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.010 1.000 1 2001 2001
dbSNP: rs369634041
rs369634041
PRKN
6 162262647 missense variant C/A;T snv 4.0E-06; 2.0E-05
CUI: C0700075
Disease: Motor restlessness
Motor restlessness 		0.010 1.000 1 2016 2016
dbSNP: rs369634041
rs369634041
PRKN
6 162262647 missense variant C/A;T snv 4.0E-06; 2.0E-05
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.010 1.000 1 2016 2016
dbSNP: rs369634041
rs369634041
PRKN
6 162262647 missense variant C/A;T snv 4.0E-06; 2.0E-05
CUI: C0392156
Disease: Akathisia
Akathisia 		0.010 1.000 1 2016 2016
dbSNP: rs571092914
rs571092914
PRKN
1.000 0.040 6 161360181 missense variant C/A;T snv 4.0E-06; 8.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 2016 2016
dbSNP: rs72480422
rs72480422
PRKN
0.925 0.040 6 161785805 missense variant C/A;T snv 4.0E-06; 1.6E-04
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 2009 2009
dbSNP: rs751037529
rs751037529
PRKN
0.925 0.040 6 161785793 missense variant C/G snv 1.2E-05
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		0.020 1.000 2 2014 2019
dbSNP: rs751037529
rs751037529
PRKN
0.925 0.040 6 161785793 missense variant C/G snv 1.2E-05
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		0.010 < 0.001 1 2016 2016
dbSNP: rs751037529
rs751037529
PRKN
0.925 0.040 6 161785793 missense variant C/G snv 1.2E-05
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		0.810 1.000 1 2013 2016
dbSNP: rs1801582
rs1801582
PRKN
0.925 0.120 6 161386823 missense variant C/G;T snv 0.16; 3.2E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.030 0.667 3 2003 2020
dbSNP: rs1801582
rs1801582
PRKN
0.925 0.120 6 161386823 missense variant C/G;T snv 0.16; 3.2E-05
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		0.010 1.000 1 2008 2008