| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 43771130 | missense variant | G/T | snv | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.882 | 0.080 | 7 | 116559145 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.708 | 0.280 | 6 | 133893387 | 3 prime UTR variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.742 | 0.240 | 10 | 87933127 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.120 | 5 | 112838934 | stop gained | C/A;T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.763 | 0.400 | 7 | 140753345 | missense variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
0.724 | 0.160 | 7 | 55191831 | missense variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.790 | 0.160 | 9 | 77794572 | missense variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.851 | 0.120 | 4 | 54728055 | missense variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.742 | 0.320 | 12 | 25245348 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.827 | 0.240 | 12 | 112450362 | missense variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.080 | 20 | 3800494 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.925 | 0.080 | 22 | 30940834 | missense variant | C/T | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.683 | 0.480 | 12 | 53961717 | upstream gene variant | C/T | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.040 | 6 | 43778482 | missense variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
1.000 | 0.080 | 14 | 20788017 | downstream gene variant | G/C | snv | 7.4E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
17 | 39727880 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
X | 15358134 | missense variant | C/A | snv | 5.5E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.807 | 0.200 | 8 | 23225458 | non coding transcript exon variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.732 | 0.280 | 2 | 217041109 | intergenic variant | A/G | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2012 | 2012 |