Source: UNIPROT

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: rs387907571
rs387907571
DNAJC13
0.827 0.080 3 132477995 missense variant A/G snv 4.2E-06 3.5E-05
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.800 1.000 0 2014 2014
dbSNP: rs150562946
rs150562946
PRKN
0.882 0.040 6 161785877 missense variant G/A snv 4.2E-04 4.5E-04
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.700 1.000 4 2003 2018
dbSNP: rs34424986
rs34424986
PRKN
0.752 0.200 6 161785820 missense variant G/A;T snv 1.9E-03; 8.0E-06
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.700 1.000 4 2003 2018
dbSNP: rs368134308
rs368134308
PRKN
0.882 0.040 6 162443356 missense variant C/A;G;T snv 3.2E-05; 2.6E-04
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.700 1.000 4 2003 2018
dbSNP: rs72480422
rs72480422
PRKN
0.925 0.040 6 161785805 missense variant C/A;T snv 4.0E-06; 1.6E-04
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.700 1.000 4 2003 2018
dbSNP: rs145242123
rs145242123
DNAJC13
1.000 3 132522838 missense variant C/A;T snv 4.1E-06; 1.5E-03
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.700 1.000 2 2014 2015
dbSNP: rs146930051
rs146930051
DNAJC13
1.000 3 132467269 missense variant G/T snv 2.0E-05 4.2E-05
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.700 1.000 2 2014 2015
dbSNP: rs764786986
rs764786986
TMEM230
1.000 20 5100921 missense variant C/A;T snv 4.0E-06; 2.4E-05
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.700 1.000 1 2016 2016
dbSNP: rs1056737920
rs1056737920
TMEM230
1.000 20 5109345 missense variant T/C snv 1.4E-05
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.700 0
dbSNP: rs747427602
rs747427602
PRKN
1.000 6 161785885 missense variant C/A;T snv 1.6E-05
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.700 0
dbSNP: rs766013346
rs766013346
DNAJC13
1.000 3 132492587 missense variant G/A;T snv 1.6E-05
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.700 0