PSEN1, presenilin 1, 5663
N. diseases: 369; N. variants: 155
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv |
|
Nervous System Diseases; Mental Disorders | 0.050 | 1.000 | 5 | 1997 | 2016 | ||||||||
|
0.763 | 0.120 | 14 | 73206470 | missense variant | A/G | snv | 1.5E-02 | 1.5E-02 |
|
Nervous System Diseases; Mental Disorders | 0.040 | 0.500 | 4 | 2000 | 2013 | ||||||
|
0.882 | 0.080 | 14 | 73217177 | missense variant | G/T | snv |
|
Nervous System Diseases; Mental Disorders | 0.030 | 1.000 | 3 | 2008 | 2020 | ||||||||
|
0.790 | 0.120 | 14 | 73173646 | missense variant | T/A | snv | 8.0E-06 |
|
Nervous System Diseases; Mental Disorders | 0.030 | 1.000 | 3 | 1997 | 2008 | |||||||
|
0.851 | 0.080 | 14 | 73192799 | missense variant | T/C | snv |
|
Nervous System Diseases; Mental Disorders | 0.020 | 1.000 | 2 | 2003 | 2017 | ||||||||
|
0.827 | 0.120 | 14 | 73173644 | missense variant | G/A;C | snv |
|
Nervous System Diseases; Mental Disorders | 0.020 | 1.000 | 2 | 2010 | 2018 | ||||||||
|
0.827 | 0.120 | 14 | 73186881 | missense variant | C/T | snv |
|
Nervous System Diseases; Mental Disorders | 0.020 | 1.000 | 2 | 2007 | 2013 | ||||||||
|
0.827 | 0.120 | 14 | 73173574 | missense variant | C/T | snv |
|
Nervous System Diseases; Mental Disorders | 0.020 | 1.000 | 2 | 2004 | 2015 | ||||||||
|
0.925 | 0.080 | 14 | 73198066 | missense variant | C/G | snv |
|
Nervous System Diseases; Mental Disorders | 0.020 | 1.000 | 2 | 1996 | 2004 | ||||||||
|
0.790 | 0.080 | 14 | 73173642 | missense variant | A/G | snv |
|
Nervous System Diseases; Mental Disorders | 0.020 | 1.000 | 2 | 1998 | 2003 | ||||||||
|
0.851 | 0.120 | 14 | 73171023 | missense variant | T/G | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 14 | 73198064 | missense variant | T/G | snv | 4.0E-06 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.080 | 14 | 73219192 | missense variant | C/A | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||||||
|
0.925 | 0.080 | 14 | 73171031 | missense variant | C/T | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.080 | 14 | 73186902 | missense variant | T/C | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.080 | 14 | 73198094 | missense variant | G/C;T | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||||||
|
0.882 | 0.080 | 14 | 73219191 | missense variant | C/T | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||||||
|
0.925 | 0.080 | 14 | 73198105 | missense variant | C/G;T | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.925 | 0.080 | 14 | 73192772 | missense variant | T/G | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.851 | 0.120 | 14 | 73192760 | missense variant | A/C;G | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.732 | 0.120 | 14 | 73192712 | missense variant | G/C;T | snv | 8.0E-06 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.732 | 0.160 | 14 | 73219177 | missense variant | C/A;T | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.925 | 0.080 | 14 | 73198047 | missense variant | G/A;C;T | snv | 4.0E-06; 2.4E-05 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||||
|
0.882 | 0.080 | 14 | 73186869 | missense variant | T/A;C;G | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.701 | 0.320 | 14 | 73173663 | missense variant | A/C;G;T | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2016 | 2016 |