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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.160 | 14 | 73198057 | missense variant | G/A | snv |
|
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 | ||||||||
|
1.000 | 0.080 | 14 | 73173583 | missense variant | C/T | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.851 | 0.120 | 14 | 73206384 | splice acceptor variant | A/T | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 3 | 2010 | 2017 | ||||||||
|
0.925 | 0.080 | 14 | 73192744 | missense variant | G/C | 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 | |||||||||||
|
0.807 | 0.120 | 14 | 73173577 | missense variant | C/G;T | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 20 | 1995 | 2018 | ||||||||
|
0.827 | 0.080 | 14 | 73186902 | missense variant | T/C | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
0.776 | 0.120 | 14 | 73170945 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-05 |
|
Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 4 | 2010 | 2014 | |||||||
|
0.851 | 0.080 | 14 | 73192799 | missense variant | T/C | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
0.827 | 0.160 | 14 | 73192786 | missense variant | G/A | snv |
|
Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 4 | 2010 | 2014 | ||||||||
|
0.925 | 0.080 | 14 | 73192720 | missense variant | G/A | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 14 | 73186859 | missense variant | C/T | snv |
|
Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 4 | 2010 | 2014 | ||||||||
|
0.851 | 0.080 | 14 | 73198094 | missense variant | G/C;T | snv |
|
Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 24 | 1995 | 2018 | ||||||||
|
1.000 | 0.080 | 14 | 73186901 | missense variant | T/C | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 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 | ||||||||
|
0.925 | 0.080 | 14 | 73198105 | missense variant | C/G;T | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 14 | 73170953 | missense variant | G/C | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 20 | 1995 | 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 | 0.080 | 14 | 73219188 | missense variant | C/T | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 20 | 1995 | 2018 | ||||||||
|
0.851 | 0.080 | 14 | 73173655 | missense variant | T/A;C | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 20 | 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 | ||||||||
|
0.925 | 0.080 | 14 | 73198106 | missense variant | T/G | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 20 | 1995 | 2018 | ||||||||
|
0.827 | 0.120 | 14 | 73192721 | missense variant | G/T | snv |
|
Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 32 | 1995 | 2018 | ||||||||
|
0.732 | 0.120 | 14 | 73192712 | missense variant | G/C;T | snv | 8.0E-06 |
|
Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 31 | 1995 | 2018 |