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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 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 | |||||||
|
0.732 | 0.160 | 14 | 73219177 | missense variant | C/A;T | snv |
|
Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 29 | 1995 | 2018 | ||||||||
|
0.689 | 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 | 73173571 | missense variant | A/G | snv |
|
Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 28 | 1995 | 2018 | ||||||||
|
0.776 | 0.160 | 14 | 73192832 | missense variant | C/A | snv |
|
Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 25 | 1995 | 2018 | ||||||||
|
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 | ||||||||
|
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 | ||||||||
|
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 | ||||||||
|
0.882 | 0.160 | 14 | 73173665 | missense variant | G/A;C;T | snv |
|
Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 24 | 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 | ||||||||
|
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 | ||||||||
|
0.925 | 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 | ||||||||
|
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 |