| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.672 | 0.160 | 9 | 130872896 | missense variant | C/T | snv |
|
0.020 | 1.000 | 2 | 2009 | 2019 | |||||||||
|
0.882 | 0.120 | 9 | 5078360 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.120 | 9 | 5078362 | missense variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.827 | 0.120 | Y | 1196852 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.120 | 7 | 50402283 | 3 prime UTR variant | T/C | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.120 | 13 | 28020665 | intron variant | T/C | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.120 | 9 | 5090497 | missense variant | G/A | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.672 | 0.560 | 10 | 104279427 | missense variant | A/G;T | snv | 0.35 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.120 | 14 | 92231568 | intergenic variant | A/T | snv | 4.1E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 10 | 62007470 | intron variant | G/A | snv | 0.15 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 13 | 28034336 | missense variant | C/T | snv | 1.3E-02 | 5.0E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.120 | 9 | 36840626 | missense variant | G/A | snv | 0.88 | 0.77 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.677 | 0.560 | 10 | 104263031 | missense variant | C/A | snv | 0.25 | 0.23 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.120 | 10 | 61925395 | intron variant | C/A;T | snv |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.120 | 5 | 153790814 | intron variant | G/A;T | snv | 0.31 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 22 | 40409754 | missense variant | G/A;C;T | snv | 3.3E-05; 8.2E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.827 | 0.160 | 8 | 103141321 | non coding transcript exon variant | G/T | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.120 | 18 | 63318618 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.160 | 7 | 143267618 | missense variant | C/A | snv |
|
0.010 | < 0.001 | 1 | 2015 | 2015 |