Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 17 | 58272835 | missense variant | G/A | snv | 1.5E-03 | 1.7E-03 |
|
0.810 | 1.000 | 1 | 1996 | 1996 | |||||||
|
1.000 | 0.080 | 17 | 58279141 | missense variant | A/G | snv | 1.0E-02 | 9.8E-03 |
|
0.810 | 1.000 | 1 | 1998 | 1998 | |||||||
|
1.000 | 0.080 | 17 | 58279553 | missense variant | T/C | snv | 4.6E-04 | 5.0E-04 |
|
0.800 | 0 | ||||||||||
|
1.000 | 0.080 | 17 | 58270865 | splice acceptor variant | T/G | snv | 4.4E-03 | 4.6E-03 |
|
0.700 | 1.000 | 3 | 1981 | 2004 | |||||||
|
1.000 | 0.080 | 17 | 58270865 | splice acceptor variant | T/G | snv | 4.4E-03 | 4.6E-03 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 17 | 58278036 | missense variant | G/A | snv | 1.2E-02 | 1.2E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 17 | 58281068 | upstream gene variant | C/T | snv | 4.3E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 17 | 58281068 | upstream gene variant | C/T | snv | 4.3E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 17 | 58281068 | upstream gene variant | C/T | snv | 4.3E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 17 | 58270865 | splice acceptor variant | T/G | snv | 4.4E-03 | 4.6E-03 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 17 | 58279141 | missense variant | A/G | snv | 1.0E-02 | 9.8E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 17 | 58279141 | missense variant | A/G | snv | 1.0E-02 | 9.8E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 17 | 58279141 | missense variant | A/G | snv | 1.0E-02 | 9.8E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 17 | 58279141 | missense variant | A/G | snv | 1.0E-02 | 9.8E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 17 | 58279141 | missense variant | A/G | snv | 1.0E-02 | 9.8E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 17 | 58272825 | missense variant | A/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 17 | 58273534 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 17 | 58273540 | missense variant | G/A;C | snv | 2.4E-05; 2.0E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 17 | 58278036 | missense variant | G/A | snv | 1.2E-02 | 1.2E-02 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 17 | 58273467 | frameshift variant | TTGGGTTCCATGGG/-;TTGGGTTCCATGGGTTGGGTTCCATGGG | delins | 8.3E-04 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 17 | 58275567 | missense variant | C/T | snv | 2.8E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.752 | 0.320 | 17 | 58281401 | upstream gene variant | C/T | snv | 0.24 |
|
0.030 | 1.000 | 3 | 2012 | 2018 | ||||||||
|
0.752 | 0.320 | 17 | 58281401 | upstream gene variant | C/T | snv | 0.24 |
|
0.020 | 0.500 | 2 | 2008 | 2013 | ||||||||
|
0.752 | 0.320 | 17 | 58281401 | upstream gene variant | C/T | snv | 0.24 |
|
0.020 | 1.000 | 2 | 2012 | 2018 | ||||||||
|
0.752 | 0.320 | 17 | 58281401 | upstream gene variant | C/T | snv | 0.24 |
|
0.020 | 0.500 | 2 | 2008 | 2013 |