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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.080 | 14 | 73219188 | missense variant | C/T | snv |
|
Nervous System Diseases; Mental Disorders | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.851 | 0.080 | 14 | 73219144 | missense variant | T/G | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.080 | 14 | 73219156 | missense variant | T/A;G | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.080 | 14 | 73192733 | missense variant | T/C | snv |
|
Nervous System Diseases; Mental Disorders | 0.020 | 1.000 | 2 | 1996 | 2008 | ||||||||
|
0.882 | 0.080 | 14 | 73219192 | missense variant | C/A | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.882 | 0.080 | 14 | 73170995 | missense variant | G/T | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 1996 | 1996 | ||||||||
|
0.882 | 0.080 | 14 | 73170984 | missense variant | G/C | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.882 | 0.080 | 14 | 73173684 | missense variant | C/G;T | snv | 5.2E-05 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.882 | 0.080 | 14 | 73173685 | missense variant | T/C | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 14 | 73206449 | missense variant | A/G | snv | 1.4E-04 | 4.2E-05 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.925 | 0.080 | 14 | 73198064 | missense variant | T/G | snv | 4.0E-06 |
|
Nervous System Diseases; Mental Disorders | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.080 | 14 | 73192720 | missense variant | G/A | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||||||
|
0.925 | 0.080 | 14 | 73186890 | missense variant | T/G | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 14 | 73192843 | missense variant | T/G | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.925 | 0.080 | 14 | 73198040 | missense variant | C/T | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 1996 | 1996 | ||||||||
|
0.925 | 0.080 | 14 | 73192699 | missense variant | A/T | snv | 4.0E-06 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 14 | 73173698 | missense variant | G/A;T | snv | 6.4E-05 |
|
Nervous System Diseases; Mental Disorders | 0.010 | < 0.001 | 1 | 2019 | 2019 |