| 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 | 0.200 | 8 | 129673211 | intron variant | T/G | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.040 | 8 | 129629675 | intron variant | A/G | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 11 | 64839070 | missense variant | G/A | snv | 2.0E-05 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.040 | 12 | 57751680 | missense variant | C/A | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.120 | 9 | 21968756 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.807 | 0.080 | 9 | 21974503 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 9 | 21968200 | 3 prime UTR variant | C/A;G | snv | 4.0E-06; 0.88 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.658 | 0.480 | 9 | 21994285 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.080 | 9 | 22032153 | intron variant | T/G | snv | 0.28 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
0.882 | 0.040 | 9 | 22066213 | intron variant | TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTTTTT | delins | 0.58 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.683 | 0.440 | 9 | 22068653 | intron variant | G/A | snv | 0.64 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.040 | 22 | 28735438 | intron variant | T/A | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.620 | 0.720 | 3 | 39265671 | missense variant | G/A | snv | 0.14 | 0.12 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.851 | 0.040 | MT | 14798 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.040 | 6 | 30898095 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.040 | 6 | 30889239 | missense variant | G/A | snv | 8.1E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.742 | 0.240 | 1 | 53909897 | intron variant | C/A;T | snv | 0.53; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.200 | 14 | 80211923 | 5 prime UTR variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.040 | 2 | 25234308 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 12 | 67657500 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.040 | 2 | 55865477 | downstream gene variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.040 | 7 | 55067179 | intron variant | A/G | snv | 0.53 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
0.882 | 0.040 | 7 | 55091656 | intron variant | A/G;T | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.724 | 0.160 | 7 | 55191831 | missense variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.807 | 0.080 | 7 | 55154129 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 |