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: 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: rs34424986
rs34424986
PRKN
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 		0.720 0.500 2 2015 2020
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: rs137853055
rs137853055
PRKN
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 		0.710 1.000 1 1998 1998
dbSNP: rs34424986
rs34424986
PRKN
0.752 0.200 6 161785820 missense variant G/A;T snv 1.9E-03; 8.0E-06
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		0.710 1.000 1 1999 2016
dbSNP: rs1801474
rs1801474
PRKN
0.851 0.080 6 162201165 missense variant C/T snv 7.1E-02 5.3E-02
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.050 1.000 5 1999 2020
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: 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
dbSNP: rs137853054
rs137853054
PRKN
0.882 0.160 6 161973317 missense variant G/A;C;T snv 3.7E-04; 4.0E-06; 8.0E-06
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		0.020 1.000 2 2006 2017
dbSNP: rs137853058
rs137853058
PRKN
0.882 0.120 6 161973401 missense variant C/T snv 1.2E-05
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		0.020 1.000 2 2002 2002
dbSNP: rs1438259227
rs1438259227
PRKN
0.827 0.080 6 162443428 missense variant T/A snv 7.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.020 1.000 2 2008 2014
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: rs34424986
rs34424986
PRKN
0.752 0.200 6 161785820 missense variant G/A;T snv 1.9E-03; 8.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.020 1.000 2 2005 2018
dbSNP: rs34424986
rs34424986
PRKN
0.752 0.200 6 161785820 missense variant G/A;T snv 1.9E-03; 8.0E-06
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.020 0.500 2 2015 2020
dbSNP: rs34424986
rs34424986
PRKN
0.752 0.200 6 161785820 missense variant G/A;T snv 1.9E-03; 8.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.020 0.500 2 2015 2020
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: rs773550500
rs773550500
PRKN
0.925 0.120 6 162054128 missense variant C/T snv 4.0E-06
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.020 1.000 2 2019 2019
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: rs1018001612
rs1018001612
PRKN
0.925 0.120 6 161548873 missense variant C/T snv 2.8E-05
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		0.010 1.000 1 2019 2019
dbSNP: rs10945859
rs10945859
PRKN
0.882 0.120 6 162721570 intron variant T/C snv 0.17
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.010 1.000 1 2017 2017
dbSNP: rs10945859
rs10945859
PRKN
0.882 0.120 6 162721570 intron variant T/C snv 0.17
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.010 1.000 1 2017 2017
dbSNP: rs10945859
rs10945859
PRKN
0.882 0.120 6 162721570 intron variant T/C snv 0.17
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		0.010 1.000 1 2017 2017
dbSNP: rs1189803871
rs1189803871
PRKN
1.000 0.040 6 161548929 synonymous variant G/A;C snv 4.0E-06
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		0.010 1.000 1 2014 2014
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