PRKN, parkin RBR E3 ubiquitin protein ligase, 5071
N. diseases: 409; N. variants: 88
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.080 | 6 | 162201165 | missense variant | C/T | snv | 7.1E-02 | 5.3E-02 |
|
Nervous System Diseases | 0.050 | 1.000 | 5 | 1999 | 2020 | ||||||
|
0.925 | 0.120 | 6 | 161386823 | missense variant | C/G;T | snv | 0.16; 3.2E-05 |
|
Nervous System Diseases | 0.030 | 0.667 | 3 | 2003 | 2020 | |||||||
|
0.827 | 0.080 | 6 | 162443428 | missense variant | T/A | snv | 7.0E-06 |
|
Nervous System Diseases | 0.020 | 1.000 | 2 | 2008 | 2014 | |||||||
|
0.851 | 0.040 | 6 | 161360193 | missense variant | C/T | snv | 2.5E-02 | 2.5E-02 |
|
Nervous System Diseases | 0.020 | 1.000 | 2 | 2002 | 2010 | ||||||
|
0.752 | 0.200 | 6 | 161785820 | missense variant | G/A;T | snv | 1.9E-03; 8.0E-06 |
|
Nervous System Diseases | 0.020 | 1.000 | 2 | 2005 | 2018 | |||||||
|
0.882 | 0.120 | 6 | 162728023 | 5 prime UTR variant | A/C;G | snv |
|
Nervous System Diseases | 0.020 | 1.000 | 2 | 2009 | 2011 | ||||||||
|
1.000 | 0.040 | 6 | 161360092 | synonymous variant | T/C | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
1.000 | 0.040 | 6 | 161569370 | missense variant | A/C;T | snv | 4.0E-06 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.040 | 6 | 162443383 | missense variant | C/A;G;T | snv | 4.0E-06; 8.8E-05 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.040 | 6 | 161350125 | missense variant | T/C;G | snv | 8.0E-06; 2.9E-04 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 6 | 161548937 | missense variant | G/A | snv | 2.4E-03 | 5.2E-04 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
0.882 | 0.040 | 6 | 162443356 | missense variant | C/A;G;T | snv | 3.2E-05; 2.6E-04 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.851 | 0.080 | 6 | 162262651 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1.000 | 0.040 | 6 | 161386865 | missense variant | G/A | snv | 2.8E-04 | 1.2E-04 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||
|
1.000 | 0.040 | 6 | 161360181 | missense variant | C/A;T | snv | 4.0E-06; 8.0E-06 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.040 | 6 | 161350005 | 3 prime UTR variant | T/C | snv | 2.5E-02 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.040 | 6 | 161785805 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-04 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.040 | 6 | 162262743 | missense variant | C/T | snv | 8.0E-06 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.851 | 0.120 | 6 | 161569381 | missense variant | G/A | snv | 1.6E-05 | 1.4E-05 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1.000 | 0.040 | 6 | 162201237 | missense variant | T/C | snv | 1.2E-05 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 |