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 | 73198094 | missense variant | G/C;T | snv |
|
Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 24 | 1995 | 2018 | ||||||||
|
1.000 | 0.080 | 14 | 73186904 | missense variant | T/C | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 24 | 1995 | 2018 | ||||||||
|
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 | 73186869 | missense variant | T/A;C;G | snv |
|
Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 24 | 1995 | 2018 | ||||||||
|
1.000 | 0.080 | 14 | 73170813 | missense variant | G/A | snv | 1.8E-04 | 2.9E-04 |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 24 | 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 | ||||||||
|
0.925 | 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 | 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 | ||||||||
|
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 | ||||||||
|
0.925 | 0.080 | 14 | 73198106 | missense variant | T/G | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 20 | 1995 | 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 | 0.700 | 1.000 | 20 | 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 | ||||||
|
1.000 | 0.080 | 14 | 73198082 | missense variant | C/G | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 20 | 1995 | 2018 | ||||||||
|
0.925 | 0.080 | 14 | 73186890 | missense variant | T/G | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 20 | 1995 | 2018 | ||||||||
|
1.000 | 0.080 | 14 | 73171024 | missense variant | T/G | snv | 4.0E-06 |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 20 | 1995 | 2018 | |||||||
|
0.925 | 0.080 | 14 | 73173654 | missense variant | A/G;T | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 20 | 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 | |||||||
|
0.925 | 0.080 | 14 | 73173630 | missense variant | A/G;T | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 20 | 1995 | 2018 | ||||||||
|
1.000 | 0.080 | 14 | 73198048 | missense variant | T/C | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 20 | 1995 | 2018 | ||||||||
|
1.000 | 0.080 | 14 | 73173576 | missense variant | C/G;T | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 20 | 1995 | 2018 | ||||||||
|
0.925 | 0.080 | 14 | 73192711 | missense variant | G/A | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 20 | 1995 | 2018 |