PINK1, PTEN induced kinase 1, 65018

N. diseases: 209; N. variants: 39
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1426868527
rs1426868527
1 20633841 missense variant G/A;T snv
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs45467995
rs45467995
1 20649062 missense variant G/A snv
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs756677845
rs756677845
1 20638074 frameshift variant G/- del
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
Nervous System Diseases 0.700 0
dbSNP: rs45539432
rs45539432
0.851 0.040 1 20649109 stop gained C/T snv 4.0E-05 3.5E-05
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs74315356
rs74315356
0.925 0.040 1 20649054 stop gained G/A snv 4.0E-06 1.4E-05
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
Nervous System Diseases 0.030 1.000 3 2006 2008
dbSNP: rs74315360
rs74315360
0.925 0.040 1 20638104 missense variant C/A snv
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs28940285
rs28940285
1.000 0.040 1 20645640 missense variant T/C snv 1.6E-05 3.5E-05
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs775809722
rs775809722
1.000 0.040 1 20633925 missense variant A/C;G snv 5.3E-06; 3.7E-05
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
Nervous System Diseases 0.010 1.000 1 2008 2008