| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.120 | 1 | 64846664 | missense variant | C/A | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.827 | 0.160 | 10 | 102900499 | non coding transcript exon variant | G/A | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.742 | 0.200 | 10 | 61963818 | intron variant | C/T | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.120 | 10 | 102878966 | missense variant | T/A;C | snv | 9.2E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 10 | 102900095 | intron variant | T/C | snv | 9.0E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.732 | 0.240 | 11 | 32396399 | synonymous variant | T/C | snv | 0.24; 4.0E-06 | 0.17 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.637 | 0.560 | 19 | 10284116 | missense variant | G/A | snv | 0.11 | 9.3E-02 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.649 | 0.280 | 10 | 88989499 | intron variant | G/A;T | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.040 | 10 | 62094648 | 3 prime UTR variant | A/G | snv | 3.9E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.695 | 0.360 | 17 | 64377836 | missense variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.925 | 0.080 | 10 | 102878723 | intron variant | C/T | snv | 9.2E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.790 | 0.280 | 17 | 43051071 | missense variant | A/C;T | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.925 | 0.040 | 10 | 61900930 | upstream gene variant | G/A | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.120 | 10 | 61940136 | intron variant | A/C | snv | 0.58 | 0.64 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.752 | 0.200 | 10 | 61992400 | intron variant | T/G | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.160 | 2 | 25345952 | upstream gene variant | T/C | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2016 | 2016 |