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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.160 | 1 | 247421289 | intron variant | A/G | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.280 | 18 | 31592921 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.742 | 0.360 | 4 | 122623509 | intron variant | C/T | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 18 | 35906684 | upstream gene variant | C/T | snv | 9.1E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.160 | 2 | 9555777 | 5 prime UTR variant | A/G | snv | 0.72 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.160 | 17 | 59841670 | 3 prime UTR variant | A/T | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.742 | 0.320 | 13 | 30457747 | 3 prime UTR variant | C/T | snv | 0.58 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 4 | 73872213 | downstream gene variant | C/A;G | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.160 | 2 | 9557243 | upstream gene variant | A/C | snv | 0.64 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.120 | 3 | 12299426 | intron variant | T/C | snv | 4.0E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.763 | 0.360 | 3 | 122120794 | 3 prime UTR variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.851 | 0.240 | 13 | 40565740 | intron variant | G/A | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.360 | 7 | 101126425 | upstream gene variant | -/A;C | ins |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.658 | 0.480 | 6 | 32184610 | upstream gene variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.555 | 0.760 | 7 | 22726627 | non coding transcript exon variant | G/C | snv | 9.9E-02 |
|
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 | ||||||||
|
0.641 | 0.480 | 3 | 52227015 | intron variant | A/G | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 1 | 19970618 | upstream gene variant | C/T | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.160 | 1 | 247415139 | upstream gene variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.827 | 0.240 | 6 | 159069404 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.677 | 0.680 | 4 | 73741338 | intron variant | C/T | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.240 | 6 | 41276002 | 3 prime UTR variant | C/T | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2012 | 2012 |