| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.020 | 1.000 | 2 | 2017 | 2018 | |||||||||
|
0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.160 | 11 | 125900000 | missense variant | A/G | snv | 1.1E-03 | 1.0E-03 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
6 | 31165217 | missense variant | C/T | snv | 4.1E-06 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.200 | 16 | 53873837 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 188984825 | missense variant | C/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.763 | 0.320 | 21 | 45534541 | synonymous variant | C/T | snv | 1.6E-05 | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
9 | 136500595 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
2 | 207567506 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
0.763 | 0.320 | 1 | 243695714 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.080 | 2 | 135045855 | intron variant | G/T | snv | 0.83 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 11 | 63646550 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 2 | 148947018 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
1.000 | 0.200 | 16 | 53873855 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
22 | 41117439 | missense variant | G/A | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.851 | 0.200 | 3 | 89481208 | 3 prime UTR variant | C/T | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
6 | 31165136 | missense variant | C/T | snv | 8.4E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.627 | 0.600 | 21 | 45531904 | missense variant | C/A;T | snv | 9.7E-06; 1.4E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 0.200 | 16 | 53873846 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 |