| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv |
|
0.020 | 1.000 | 2 | 2014 | 2015 | |||||||||
|
0.851 | 0.080 | 2 | 214771070 | intron variant | T/C | snv | 0.16 |
|
0.020 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 |
|
0.020 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.807 | 0.120 | 14 | 73192844 | missense variant | T/C | snv |
|
0.020 | 1.000 | 2 | 2000 | 2001 | |||||||||
|
0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv |
|
0.020 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
0.882 | 0.080 | 3 | 158460535 | intron variant | G/A | snv | 0.51 |
|
0.020 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
0.851 | 0.160 | 20 | 4699870 | missense variant | A/G | snv |
|
0.020 | 1.000 | 2 | 1997 | 2000 | |||||||||
|
0.851 | 0.080 | 2 | 29209789 | missense variant | T/G | snv |
|
0.020 | 1.000 | 2 | 2017 | 2018 | |||||||||
|
0.882 | 0.080 | 5 | 55865274 | intron variant | A/G | snv | 0.76 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 1 | 161743067 | intergenic variant | C/T | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.851 | 0.160 | 4 | 41747479 | missense variant | C/A | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.827 | 0.080 | 4 | 41746162 | missense variant | C/T | snv |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||||
|
0.776 | 0.120 | 2 | 29220830 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.807 | 0.080 | 19 | 1223124 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.827 | 0.200 | 8 | 24952575 | 3 prime UTR variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.851 | 0.120 | 11 | 102599525 | intron variant | A/G | snv | 9.4E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.080 | 11 | 43706780 | intron variant | T/C | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.080 | 11 | 8231502 | intron variant | T/C | snv | 0.42 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.080 | 9 | 134449754 | TF binding site variant | T/C | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.677 | 0.400 | 5 | 168768351 | intron variant | G/A | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.080 | 1 | 26429683 | 3 prime UTR variant | G/A | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.080 | 19 | 7914916 | upstream gene variant | G/C | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2016 | 2016 |