| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 12 | 25206418 | 3 prime UTR variant | G/A | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 19 | 10489289 | synonymous variant | G/A | snv | 4.2E-02 | 1.6E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 17 | 50683692 | missense variant | G/A | snv | 3.7E-02 | 3.9E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.080 | 12 | 950115 | intron variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.807 | 0.080 | 13 | 73064505 | intron variant | A/C | snv | 5.8E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 22 | 38169236 | missense variant | T/A;C | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 19 | 38813176 | upstream gene variant | G/T | snv | 9.0E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 2 | 10433072 | regulatory region variant | C/T | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 14 | 102342318 | 3 prime UTR variant | G/C | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 6 | 31828202 | missense variant | G/A;T | snv | 1.9E-05 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.080 | 8 | 124929255 | intron variant | A/G | snv | 0.53 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 8 | 1979843 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.080 | 7 | 127890817 | intron variant | A/G | snv | 1.7E-03 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.080 | 15 | 90782869 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.080 | 10 | 32957868 | 5 prime UTR variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.080 | 1 | 145995155 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.080 | 8 | 42277660 | intron variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | 8 | 29478491 | intergenic variant | T/C | snv | 0.71 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 1 | 65477024 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | 1 | 241520405 | upstream gene variant | C/A;T | snv | 0.71 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 1 | 47970476 | intron variant | T/C | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 9 | 122374605 | intron variant | A/G | snv | 0.79 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 21 | 26837076 | 3 prime UTR variant | T/C | snv | 7.7E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 14 | 102229572 | missense variant | C/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.080 | 9 | 122390332 | synonymous variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 |