| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.080 | 4 | 55885574 | intron variant | C/T | snv | 0.21 |
|
0.730 | 1.000 | 4 | 2013 | 2017 | ||||||||
|
0.807 | 0.280 | 6 | 33104395 | intron variant | T/G | snv | 3.1E-02 |
|
0.730 | 1.000 | 4 | 2013 | 2016 | ||||||||
|
0.827 | 0.120 | 6 | 31422633 | intron variant | T/C;G | snv |
|
0.720 | 1.000 | 3 | 2013 | 2016 | |||||||||
|
0.882 | 0.080 | 6 | 33121846 | intron variant | C/A;G | snv |
|
0.720 | 1.000 | 3 | 2013 | 2018 | |||||||||
|
0.752 | 0.240 | 17 | 39895095 | regulatory region variant | A/G | snv | 0.50 |
|
0.720 | 1.000 | 3 | 2013 | 2017 | ||||||||
|
0.882 | 0.080 | 6 | 32633026 | intron variant | T/C | snv | 0.49 |
|
0.720 | 1.000 | 3 | 2013 | 2014 | ||||||||
|
0.724 | 0.440 | 6 | 33087084 | 3 prime UTR variant | A/G | snv | 0.25 |
|
0.720 | 1.000 | 3 | 2013 | 2018 | ||||||||
|
0.851 | 0.080 | 6 | 33236497 | upstream gene variant | G/A | snv | 0.10 |
|
0.720 | 1.000 | 3 | 2013 | 2016 | ||||||||
|
1.000 | 0.080 | 6 | 33057663 | TF binding site variant | T/C | snv | 8.6E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.742 | 0.240 | 6 | 33208047 | upstream gene variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | 6 | 33128497 | intron variant | G/A | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.160 | 6 | 33118074 | intron variant | C/T | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 6 | 33126481 | intron variant | C/T | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 6 | 33123059 | intron variant | G/A | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.160 | 6 | 33081144 | non coding transcript exon variant | A/G | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 6 | 33148017 | upstream gene variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.080 | 2 | 227644742 | intron variant | C/T | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 1220674 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.786 | 14 | 2004 | 2019 | |||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.100 | 0.923 | 13 | 2002 | 2018 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.100 | 0.900 | 10 | 2002 | 2016 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.100 | 0.900 | 10 | 2002 | 2016 | |||||||||
|
0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 |
|
0.090 | 1.000 | 9 | 2012 | 2018 | |||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.090 | 0.778 | 9 | 2005 | 2019 |