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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||||
|
0.882 | 0.080 | 14 | 73219192 | missense variant | C/A | snv |
|
Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 20 | 1995 | 2018 | ||||||||
|
0.882 | 0.080 | 14 | 73219191 | missense variant | C/T | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 20 | 1995 | 2018 | ||||||||
|
0.851 | 0.080 | 14 | 73219188 | missense variant | C/T | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 20 | 1995 | 2018 | ||||||||
|
1.000 | 0.080 | 14 | 73219185 | missense variant | GC/TG | mnv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
0.732 | 0.160 | 14 | 73219177 | missense variant | C/A;T | snv |
|
Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 29 | 1995 | 2018 | ||||||||
|
0.807 | 0.160 | 14 | 73219161 | missense variant | G/C | snv |
|
Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 4 | 2010 | 2014 | ||||||||
|
1.000 | 0.080 | 14 | 73219139 | missense variant | G/T | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
0.807 | 0.120 | 14 | 73217225 | missense variant | G/A;T | snv | 4.0E-06 |
|
Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 17 | 1995 | 2017 | |||||||
|
1.000 | 0.080 | 14 | 73217221 | missense variant | G/A | snv | 7.0E-06 |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 24 | 1995 | 2018 | |||||||
|
0.882 | 0.080 | 14 | 73217219 | missense variant | T/C | snv | 4.0E-06 |
|
Nervous System Diseases; Mental Disorders | 0.700 | 0 | ||||||||||
|
0.851 | 0.160 | 14 | 73217210 | missense variant | A/G | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 14 | 73217177 | missense variant | G/T | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 14 | 73217170 | missense variant | C/G | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 20 | 1995 | 2018 | ||||||||
|
1.000 | 0.080 | 14 | 73217165 | missense variant | G/T | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
0.807 | 0.120 | 14 | 73217147 | missense variant | G/C | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 20 | 1995 | 2018 | ||||||||
|
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 | ||||||||
|
1.000 | 0.080 | 14 | 73217129 | missense variant | G/C;T | snv | 4.0E-06 |
|
Nervous System Diseases; Mental Disorders | 0.700 | 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 | 73211886 | missense variant | G/A;C | snv | 4.0E-05; 1.2E-05 |
|
Nervous System Diseases; Mental Disorders | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 14 | 73211874 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 |
|
Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||
|
0.851 | 0.120 | 14 | 73206384 | splice acceptor variant | A/T | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 3 | 2010 | 2017 | ||||||||
|
0.807 | 0.120 | 14 | 73198117 | missense variant | C/G | snv |
|
Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 4 | 2010 | 2014 | ||||||||
|
1.000 | 0.080 | 14 | 73198115 | missense variant | C/T | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 14 | 73198106 | missense variant | T/G | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 20 | 1995 | 2018 |