| 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 | 2 | 25247708 | frameshift variant | TTTCC/- | del |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.100 | 0.833 | 12 | 2005 | 2014 | |||||||||
|
0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 |
|
0.030 | 1.000 | 3 | 2013 | 2015 | ||||||||
|
0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 |
|
0.020 | 1.000 | 2 | 2015 | 2018 | ||||||||
|
0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 |
|
0.020 | 1.000 | 2 | 2012 | 2013 | |||||||
|
0.742 | 0.240 | 9 | 23557229 | intron variant | T/G | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 10 | 113729891 | 3 prime UTR variant | T/G | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 2 | 102397842 | 3 prime UTR variant | T/G | snv | 0.23 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.653 | 0.600 | 15 | 81305928 | missense variant | T/G | snv | 9.6E-02 | 0.12 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.807 | 0.080 | 13 | 72432915 | intergenic variant | T/G | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.120 | 2 | 31344766 | intron variant | T/G | snv | 0.11 | 0.16 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.790 | 0.160 | 4 | 15968726 | 3 prime UTR variant | T/G | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.677 | 0.480 | 19 | 45365051 | synonymous variant | T/G | snv | 0.58 | 0.65 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.120 | 3 | 124763266 | 3 prime UTR variant | T/G | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.120 | 11 | 35162817 | intron variant | T/G | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 11 | 3057655 | splice region variant | T/G | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 10 | 42751347 | non coding transcript exon variant | T/G | snv | 5.9E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 |
|
0.020 | 0.500 | 2 | 2012 | 2016 | ||||||||
|
0.925 | 0.080 | 20 | 32762102 | upstream gene variant | T/C;G | snv |
|
0.020 | 1.000 | 2 | 2012 | 2016 | |||||||||
|
0.790 | 0.160 | 8 | 142670817 | intron variant | T/C;G | snv |
|
0.020 | 1.000 | 2 | 2012 | 2013 | |||||||||
|
0.882 | 0.080 | 10 | 94338336 | intron variant | T/C;G | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.672 | 0.480 | 14 | 20454990 | non coding transcript exon variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 5 | 52861540 | missense variant | T/C;G | snv | 0.79; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.790 | 0.120 | 9 | 97687210 | missense variant | T/C;G | snv | 1.2E-05; 2.0E-05 |
|
0.010 | 1.000 | 1 | 2010 | 2010 |