| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 4 | 99878804 | 3 prime UTR variant | T/C | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 4 | 99344800 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
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 | 4 | 99307788 | 3 prime UTR variant | T/C | snv | 9.6E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 4 | 99265219 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.851 | 0.120 | 9 | 99123789 | intron variant | T/C | snv | 6.5E-02 |
|
0.020 | 1.000 | 2 | 2014 | 2018 | ||||||||
|
0.851 | 0.120 | 9 | 99112121 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.672 | 0.480 | 8 | 9903189 | non coding transcript exon variant | G/C | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.120 | 9 | 97690153 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
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 | ||||||||
|
0.807 | 0.240 | 9 | 97675558 | missense variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 |
|
0.100 | 0.800 | 15 | 2001 | 2017 | |||||||
|
0.627 | 0.480 | 3 | 9756778 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 |
|
0.020 | 1.000 | 2 | 2009 | 2010 | |||||||
|
0.925 | 0.080 | 1 | 97515839 | missense variant | T/C | snv | 0.20 | 0.18 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.790 | 0.160 | 3 | 9748794 | upstream gene variant | G/A | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.662 | 0.640 | 14 | 95087025 | 3 prime UTR variant | A/G | snv | 8.7E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.080 | 10 | 94338336 | intron variant | T/C;G | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.120 | 10 | 94310618 | intron variant | A/G | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.080 | 10 | 94308190 | intron variant | A/G | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.620 | 0.400 | 10 | 94306584 | missense variant | A/G | snv | 0.28 | 0.31 |
|
0.100 | 1.000 | 17 | 2010 | 2019 | |||||||
|
0.724 | 0.320 | 10 | 94298541 | missense variant | C/T | snv | 0.27 | 0.31 |
|
0.020 | 1.000 | 2 | 2012 | 2019 | |||||||
|
0.925 | 0.080 | 10 | 94292754 | intron variant | C/T | snv | 7.8E-02 |
|
0.020 | 1.000 | 2 | 2012 | 2014 | ||||||||
|
0.882 | 0.080 | 10 | 94291660 | intron variant | G/A;C;T | snv |
|
0.020 | 1.000 | 2 | 2012 | 2014 |