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: 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: 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: 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: 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: 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: 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: 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
dbSNP: rs1438259227
rs1438259227
PRKN
0.827 0.080 6 162443428 missense variant T/A snv 7.0E-06
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.010 1.000 1 2017 2017
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: rs2023004
rs2023004
PRKN
1.000 0.040 6 162495517 intron variant T/C snv 0.31
CUI: C0023343
Disease: Leprosy
Leprosy 		0.010 1.000 1 2013 2013
dbSNP: rs2276201
rs2276201
PRKN ; PACRG
1.000 0.080 6 162728465 intron variant T/C snv 0.41
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs2803073
rs2803073
PRKN
0.925 0.120 6 162541796 intron variant G/A snv 0.74
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		0.010 1.000 1 2016 2016
dbSNP: rs2803073
rs2803073
PRKN
0.925 0.120 6 162541796 intron variant G/A snv 0.74
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		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