| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.683 | 0.400 | 21 | 43104346 | missense variant | G/A;T | snv | 8.0E-06 |
|
0.850 | 1.000 | 5 | 2013 | 2019 | ||||||||
|
0.851 | 0.200 | 17 | 76736877 | missense variant | G/A;C;T | snv | 6.3E-05; 2.9E-05; 1.2E-04 |
|
0.020 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
1.000 | 0.040 | 9 | 113424228 | frameshift variant | -/G | delins | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
4 | 105234028 | missense variant | C/G;T | snv | 6.3E-02; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.605 | 0.480 | 10 | 129708019 | missense variant | C/T | snv | 0.14 | 0.14 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.040 | 15 | 74044940 | missense variant | C/T | snv | 4.0E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.662 | 0.440 | 3 | 37012077 | missense variant | A/C;G;T | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.752 | 0.200 | 10 | 49470671 | missense variant | T/C | snv | 0.22 | 0.19 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 10 | 49459059 | missense variant | T/C | snv | 0.22 | 0.19 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.240 | 5 | 87399457 | missense variant | A/G;T | snv | 0.18 | 0.17 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.160 | 4 | 105275794 | missense variant | A/G;T | snv | 0.30; 6.4E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
20 | 32434666 | missense variant | G/A | snv | 1.9E-02; 4.4E-06 | 7.4E-03 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 12 | 103982915 | missense variant | G/A;C;T | snv | 4.7E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
0.100 | 0.929 | 14 | 2005 | 2018 | ||||||||
|
0.614 | 0.280 | 15 | 90087472 | missense variant | C/T | snv | 2.0E-03 | 1.6E-03 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.710 | 1.000 | 1 | 2016 | 2018 | ||||||||
|
0.925 | 0.080 | X | 40074459 | missense variant | C/A;T | snv | 6.1E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | X | 130013883 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.732 | 0.280 | 2 | 197402110 | stop gained | T/A;C;G | snv | 9.0E-05 |
|
0.030 | 1.000 | 3 | 2016 | 2017 | ||||||||
|
0.701 | 0.440 | 17 | 7674917 | missense variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
17 | 7676271 | frameshift variant | -/A | delins |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
0.827 | 0.080 | 6 | 38761760 | missense variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.716 | 0.320 | 16 | 13935176 | missense variant | G/A | snv | 5.6E-02 | 5.3E-02 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 |