| 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 | 0.040 | 8 | 99511424 | frameshift variant | A/- | del |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.360 | 8 | 99868312 | stop gained | C/T | snv | 2.1E-05 |
|
0.700 | 0 | |||||||||||
|
0.763 | 0.320 | 17 | 30197993 | 3 prime UTR variant | A/C | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.925 | 0.080 | 17 | 27800492 | 5 prime UTR variant | C/A;G;T | snv |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.040 | 17 | 27765605 | synonymous variant | A/G | snv | 0.66 | 0.68 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||
|
0.790 | 0.360 | 9 | 117701869 | upstream gene variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 20 | 46000706 | regulatory region variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 1 | 169733631 | 5 prime UTR variant | C/A | snv | 8.3E-02 | 7.8E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.658 | 0.480 | 17 | 27769571 | missense variant | G/A | snv | 0.18 | 0.17 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.611 | 0.720 | 16 | 3254626 | missense variant | C/G;T | snv | 7.1E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 6 | 52238749 | missense variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.160 | 1 | 247423034 | intron variant | T/C | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.763 | 0.440 | 1 | 247435768 | intron variant | T/C | snv | 0.65 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.732 | 0.480 | 20 | 46119308 | intron variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 |