| 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 | 1 | 6150910 | intron variant | G/A | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.807 | 0.240 | 1 | 11030859 | missense variant | C/A | snv | 0.74 | 0.63 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.120 | 1 | 53906244 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 1 | 28886822 | upstream gene variant | C/A | snv | 9.3E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.360 | 1 | 67189464 | intron variant | G/A | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.200 | 1 | 156242034 | intron variant | T/C | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.763 | 0.280 | 1 | 97883329 | missense variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 1 | 119743954 | missense variant | T/A | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.716 | 0.440 | 1 | 65610269 | missense variant | G/C;T | snv | 0.16; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 1 | 161042800 | intron variant | G/A | snv | 0.25 | 0.22 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.200 | 1 | 161040972 | intron variant | C/T | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.776 | 0.400 | 1 | 207580276 | missense variant | A/G | snv | 0.25 | 0.21 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.827 | 0.120 | 1 | 7785635 | intron variant | T/C | snv | 0.69 | 0.69 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.732 | 0.320 | 1 | 161043331 | 5 prime UTR variant | C/T | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 1 | 23521037 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
1.000 | 0.080 | 1 | 45332883 | non coding transcript exon variant | T/C | snv | 0.93 | 0.93 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1.000 | 0.080 | 1 | 10360860 | intron variant | G/A | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.080 | 1 | 11804529 | 5 prime UTR variant | T/C | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.776 | 0.240 | 1 | 241846814 | upstream gene variant | A/G | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 1 | 160830769 | 3 prime UTR variant | A/G | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2015 | 2015 |