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: 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: 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
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: 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: 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: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		0.010 < 0.001 1 2006 2006
dbSNP: rs137853058
rs137853058
PRKN
0.882 0.120 6 161973401 missense variant C/T snv 1.2E-05
CUI: C0752105
Disease: Parkinsonism, Juvenile
Parkinsonism, Juvenile 		0.010 1.000 1 2001 2001
dbSNP: rs139600787
rs139600787
PRKN
0.882 0.080 6 161785882 missense variant T/C snv 1.6E-05 4.2E-05
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 < 0.001 1 2020 2020
dbSNP: rs139600787
rs139600787
PRKN
0.882 0.080 6 161785882 missense variant T/C snv 1.6E-05 4.2E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 < 0.001 1 2020 2020
dbSNP: rs139600787
rs139600787
PRKN
0.882 0.080 6 161785882 missense variant T/C snv 1.6E-05 4.2E-05
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 < 0.001 1 2020 2020
dbSNP: rs141366047
rs141366047
PRKN
0.882 0.120 6 161785829 missense variant G/A;C;T snv 4.0E-06; 1.2E-05; 9.6E-05
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		0.010 1.000 1 2019 2019
dbSNP: rs141366047
rs141366047
PRKN
0.882 0.120 6 161785829 missense variant G/A;C;T snv 4.0E-06; 1.2E-05; 9.6E-05
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease 		0.010 1.000 1 2005 2005
dbSNP: rs141366047
rs141366047
PRKN
0.882 0.120 6 161785829 missense variant G/A;C;T snv 4.0E-06; 1.2E-05; 9.6E-05
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs1418016570
rs1418016570
PRKN
6 161973326 missense variant G/C snv 4.0E-06
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs1438259227
rs1438259227
PRKN
0.827 0.080 6 162443428 missense variant T/A snv 7.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2014 2014
dbSNP: rs1438259227
rs1438259227
PRKN
0.827 0.080 6 162443428 missense variant T/A snv 7.0E-06
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.010 1.000 1 2017 2017
dbSNP: rs1438259227
rs1438259227
PRKN
0.827 0.080 6 162443428 missense variant T/A snv 7.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2017 2017