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: rs62637702
rs62637702
PRKN
1.000 0.040 6 161350005 3 prime UTR variant T/C snv 2.5E-02
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 2013 2013
dbSNP: rs182893847
rs182893847
PRKN
1.000 0.040 6 161350125 missense variant T/C;G snv 8.0E-06; 2.9E-04
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 2018 2018
dbSNP: rs747064211
rs747064211
PRKN
1.000 0.120 6 161350178 missense variant T/C snv 4.0E-06
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.010 1.000 1 2018 2018
dbSNP: rs1370041903
rs1370041903
PRKN
0.925 0.120 6 161350185 stop gained G/A snv
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.010 1.000 1 2019 2019
dbSNP: rs1370041903
rs1370041903
PRKN
0.925 0.120 6 161350185 stop gained G/A snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 1.000 1 2019 2019
dbSNP: rs1370041903
rs1370041903
PRKN
0.925 0.120 6 161350185 stop gained G/A snv
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs1258359845
rs1258359845
PRKN
1.000 0.040 6 161360092 synonymous variant T/C snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 2002 2002
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: rs1801334
rs1801334
PRKN
0.851 0.040 6 161360193 missense variant C/T snv 2.5E-02 2.5E-02
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.020 1.000 2 2002 2010
dbSNP: rs1801334
rs1801334
PRKN
0.851 0.040 6 161360193 missense variant C/T snv 2.5E-02 2.5E-02
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2003 2003
dbSNP: rs1801334
rs1801334
PRKN
0.851 0.040 6 161360193 missense variant C/T snv 2.5E-02 2.5E-02
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease 		0.010 1.000 1 2005 2005
dbSNP: rs1801334
rs1801334
PRKN
0.851 0.040 6 161360193 missense variant C/T snv 2.5E-02 2.5E-02
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		0.010 1.000 1 2003 2003
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
dbSNP: rs1801582
rs1801582
PRKN
0.925 0.120 6 161386823 missense variant C/G;T snv 0.16; 3.2E-05
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		0.010 1.000 1 2020 2020
dbSNP: rs56092260
rs56092260
PRKN
1.000 0.040 6 161386865 missense variant G/A snv 2.8E-04 1.2E-04
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 2000 2000
dbSNP: rs6455728
rs6455728
PRKN
0.851 0.080 6 161428757 intron variant T/A;G snv
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.010 1.000 1 2016 2016
dbSNP: rs6455728
rs6455728
PRKN
0.851 0.080 6 161428757 intron variant T/A;G snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2016 2016
dbSNP: rs6455728
rs6455728
PRKN
0.851 0.080 6 161428757 intron variant T/A;G snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2016 2016
dbSNP: rs6455728
rs6455728
PRKN
0.851 0.080 6 161428757 intron variant T/A;G snv
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: 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: rs1018001612
rs1018001612
PRKN
0.925 0.120 6 161548873 missense variant C/T snv 2.8E-05
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.020 1.000 2 2019 2019