| 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 | 3 | 32978543 | intergenic variant | G/T | snv | 0.73 |
|
0.810 | 1.000 | 3 | 2010 | 2016 | ||||||||
|
1.000 | 0.080 | 12 | 130371771 | 3 prime UTR variant | C/T | snv | 0.50 |
|
0.020 | 0.500 | 2 | 2013 | 2017 | ||||||||
|
1.000 | 0.080 | 5 | 1279417 | missense variant | C/G | snv |
|
0.700 | 1.000 | 2 | 2013 | 2017 | |||||||||
|
0.925 | 0.080 | 3 | 20119604 | missense variant | A/C;G | snv | 4.0E-06; 3.3E-02 |
|
0.020 | 1.000 | 2 | 2012 | 2016 | ||||||||
|
1.000 | 0.080 | 14 | 20373548 | missense variant | C/T | snv | 0.26 | 0.29 |
|
0.020 | 0.500 | 2 | 2014 | 2016 | |||||||
|
0.882 | 0.080 | 19 | 43546923 | synonymous variant | G/A | snv | 1.6E-04 | 1.5E-04 |
|
0.020 | 1.000 | 2 | 2013 | 2019 | |||||||
|
1.000 | 0.080 | 1 | 7829881 | synonymous variant | C/T | snv | 0.22 | 0.22 |
|
0.020 | 1.000 | 2 | 2012 | 2014 | |||||||
|
1.000 | 0.080 | 16 | 71285743 | missense variant | G/A;C | snv | 0.94 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 5 | 38883969 | missense variant | T/G | snv | 8.3E-02 | 9.7E-02 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 12 | 130876170 | 3 prime UTR variant | A/C;G | snv |
|
0.020 | 0.500 | 2 | 2013 | 2017 | |||||||||
|
1.000 | 0.080 | 11 | 67584114 | intron variant | C/G | snv | 0.49 | 0.39 |
|
0.020 | 1.000 | 2 | 2015 | 2016 | |||||||
|
1.000 | 0.080 | 11 | 88232053 | regulatory region variant | C/T | snv | 0.70 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 20 | 56864307 | intergenic variant | C/G;T | snv |
|
0.020 | 1.000 | 2 | 2018 | 2020 | |||||||||
|
1.000 | 0.080 | 20 | 12116249 | intergenic variant | A/C;G;T | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 6 | 30044563 | intron variant | G/A | snv | 0.12 |
|
0.020 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
1.000 | 0.080 | 13 | 67148073 | intron variant | A/G | snv | 0.20 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 5 | 41142504 | 3 prime UTR variant | C/A;T | snv |
|
0.020 | 1.000 | 2 | 2016 | 2017 | |||||||||
|
1.000 | 0.080 | 5 | 41165642 | intron variant | C/T | snv | 7.5E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 21 | 33341701 | intron variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.080 | 1 | 161194005 | missense variant | G/A | snv | 4.0E-06 | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 20 | 34437762 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 12 | 10930757 | missense variant | A/G;T | snv | 0.11; 1.4E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 4 | 141732931 | 3 prime UTR variant | C/A | snv | 0.10 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 2 | 100996153 | 3 prime UTR variant | T/C | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 6 | 41932887 | 3 prime UTR variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 |