| 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 | 7 | 55170434 | missense variant | T/A | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.120 | 7 | 55181370 | missense variant | G/A;C | snv | 0.52; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.790 | 0.120 | 7 | 55174029 | missense variant | G/A | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.080 | 7 | 55191839 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | 7 | 55163740 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.807 | 0.080 | 7 | 55154129 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.080 | 7 | 55201223 | synonymous variant | C/T | snv | 0.14 | 9.5E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.080 | 7 | 55198761 | missense variant | G/A | snv | 3.6E-05 | 6.3E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.851 | 0.120 | 7 | 55174776 | missense variant | TT/CC | mnv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 7 | 55191753 | missense variant | A/T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 7 | 55094053 | intron variant | T/C | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.776 | 0.120 | 7 | 55019062 | 5 prime UTR variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.080 | 7 | 55181395 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 7 | 55049014 | intron variant | G/A | snv | 4.3E-02 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.160 | 7 | 55205466 | missense variant | G/A | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.120 | 7 | 55019290 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | 7 | 55181313 | missense variant | C/G;T | snv | 4.8E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.160 | 7 | 55206391 | 3 prime UTR variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.790 | 0.120 | 7 | 55191837 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 7 | 55177671 | intron variant | G/C | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 7 | 55181302 | missense variant | G/A;C | snv | 4.0E-05; 8.0E-06 |
|
0.020 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.658 | 0.520 | 7 | 55161562 | missense variant | G/A;C;T | snv | 0.29 |
|
0.050 | 1.000 | 5 | 2007 | 2011 | ||||||||
|
0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 |
|
0.100 | 0.980 | 406 | 2005 | 2020 | |||||||
|
0.776 | 0.080 | 7 | 55181398 | missense variant | T/A | snv |
|
0.100 | 0.938 | 16 | 2015 | 2020 | |||||||||
|
0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv |
|
0.100 | 1.000 | 13 | 2011 | 2019 |