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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.240 | 14 | 73192647 | missense variant | A/C | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 20 | 1995 | 2018 | ||||||||
|
0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv |
|
Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 29 | 1995 | 2018 | ||||||||
|
0.851 | 0.120 | 14 | 73192760 | missense variant | A/C;G | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 20 | 1995 | 2018 | ||||||||
|
0.701 | 0.320 | 14 | 73173663 | missense variant | A/C;G;T | snv |
|
Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 24 | 1995 | 2018 | ||||||||
|
1.000 | 0.080 | 14 | 73192732 | missense variant | A/C;T | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 14 | 73173587 | missense variant | A/C;T | snv |
|
Nervous System Diseases; Mental Disorders | 0.800 | 0 | |||||||||||
|
0.851 | 0.120 | 14 | 73173571 | missense variant | A/G | snv |
|
Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 28 | 1995 | 2018 | ||||||||
|
0.790 | 0.120 | 14 | 73186860 | missense variant | A/G | snv |
|
Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 24 | 1995 | 2018 | ||||||||
|
1.000 | 0.080 | 14 | 73219200 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 20 | 1995 | 2018 | ||||||
|
0.790 | 0.080 | 14 | 73173642 | missense variant | A/G | snv |
|
Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 4 | 2010 | 2014 | ||||||||
|
0.827 | 0.120 | 14 | 73173631 | missense variant | A/G | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 4 | 1997 | 2017 | ||||||||
|
0.851 | 0.160 | 14 | 73217210 | missense variant | A/G | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 14 | 73173688 | missense variant | A/G | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 14 | 73173654 | missense variant | A/G;T | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 20 | 1995 | 2018 | ||||||||
|
0.925 | 0.080 | 14 | 73173630 | missense variant | A/G;T | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 20 | 1995 | 2018 | ||||||||
|
0.742 | 0.120 | 14 | 73192792 | missense variant | A/G;T | snv |
|
Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 3 | 2001 | 2018 | ||||||||
|
1.000 | 0.080 | 14 | 73192780 | missense variant | A/T | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 20 | 1995 | 2018 | ||||||||
|
0.851 | 0.120 | 14 | 73206384 | splice acceptor variant | A/T | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 3 | 2010 | 2017 | ||||||||
|
0.776 | 0.160 | 14 | 73192832 | missense variant | C/A | snv |
|
Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 25 | 1995 | 2018 | ||||||||
|
0.882 | 0.080 | 14 | 73219192 | missense variant | C/A | snv |
|
Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 20 | 1995 | 2018 | ||||||||
|
1.000 | 0.080 | 14 | 73211907 | missense variant | C/A | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 14 | 73186892 | missense variant | C/A | snv |
|
Nervous System Diseases; Mental Disorders | 0.800 | 0 | |||||||||||
|
0.752 | 0.200 | 14 | 73217137 | missense variant | C/A;G;T | snv |
|
Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 24 | 1995 | 2018 | ||||||||
|
0.732 | 0.160 | 14 | 73219177 | missense variant | C/A;T | snv |
|
Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 29 | 1995 | 2018 | ||||||||
|
1.000 | 0.080 | 14 | 73198082 | missense variant | C/G | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 20 | 1995 | 2018 |