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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 14 | 73186878 | missense variant | C/T | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||||||
|
0.925 | 0.080 | 14 | 73192711 | missense variant | G/A | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.120 | 14 | 73173644 | missense variant | G/A;C | snv |
|
Nervous System Diseases; Mental Disorders | 0.020 | 1.000 | 2 | 2010 | 2018 | ||||||||
|
0.925 | 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 | |||||||
|
0.790 | 0.120 | 14 | 73170998 | missense variant | G/A;T | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.807 | 0.120 | 14 | 73217147 | missense variant | G/C | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||||||
|
1.000 | 0.080 | 14 | 73192761 | missense variant | G/C | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.925 | 0.080 | 14 | 73186867 | missense variant | G/C | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.080 | 14 | 73198094 | missense variant | G/C;T | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||||||
|
0.732 | 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 | |||||||
|
0.882 | 0.080 | 14 | 73217177 | missense variant | G/T | snv |
|
Nervous System Diseases; Mental Disorders | 0.030 | 1.000 | 3 | 2008 | 2020 | ||||||||
|
0.882 | 0.080 | 14 | 73170974 | missense variant | G/T | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
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 | |||||||
|
0.925 | 0.080 | 14 | 73173687 | missense variant | T/A | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.827 | 0.080 | 14 | 73173643 | missense variant | T/A;C | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
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 | ||||||||
|
0.851 | 0.080 | 14 | 73219156 | missense variant | T/A;G | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
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 | 0.080 | 14 | 73186902 | missense variant | T/C | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.160 | 14 | 73170963 | missense variant | T/C | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.925 | 0.080 | 14 | 73186884 | missense variant | T/C | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||||||
|
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 | |||||||
|
0.925 | 0.080 | 14 | 73192772 | missense variant | T/G | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.851 | 0.080 | 14 | 73219144 | missense variant | T/G | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2007 | 2007 |