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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.742 | 0.120 | 14 | 73192792 | missense variant | A/G;T | snv |
|
Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 3 | 2001 | 2018 | ||||||||
|
0.851 | 0.080 | 14 | 73198072 | missense variant | C/G | snv |
|
Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
1.000 | 0.080 | 14 | 73186892 | missense variant | C/A | snv |
|
Nervous System Diseases; Mental Disorders | 0.800 | 0 | |||||||||||
|
1.000 | 0.080 | 14 | 73173587 | missense variant | A/C;T | snv |
|
Nervous System Diseases; Mental Disorders | 0.800 | 0 | |||||||||||
|
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 | |||||||
|
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 | ||||||
|
0.925 | 0.160 | 14 | 73198057 | missense variant | G/A | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 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 | ||||||||
|
0.807 | 0.120 | 14 | 73173577 | missense variant | C/G;T | 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 | ||||||||
|
0.851 | 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 | ||||||||
|
0.925 | 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 | ||||||||
|
0.827 | 0.120 | 14 | 73198052 | missense variant | C/T | snv | 4.0E-06 |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 20 | 1995 | 2018 | |||||||
|
0.790 | 0.240 | 14 | 73192647 | missense variant | A/C | 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 |