| 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 | 2 | 217818431 | missense variant | A/G;T | snv | 0.62 |
|
0.800 | 1.000 | 5 | 2010 | 2019 | ||||||||
|
10 | 76555466 | intron variant | G/A | snv | 0.41 |
|
0.800 | 1.000 | 3 | 2011 | 2015 | ||||||||||
|
1.000 | 0.040 | 4 | 105897896 | splice region variant | G/A;T | snv | 0.17 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||
|
4 | 144513536 | intron variant | T/C | snv | 0.68 |
|
0.700 | 1.000 | 2 | 2015 | 2015 | ||||||||||
|
4 | 105767747 | intron variant | A/G | snv | 5.4E-02 |
|
0.700 | 1.000 | 2 | 2010 | 2017 | ||||||||||
|
12 | 114763631 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2015 | 2019 | |||||||||||
|
22 | 17967521 | intron variant | A/T | snv | 0.20 |
|
0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||||
|
2 | 238955452 | regulatory region variant | C/G;T | snv |
|
0.800 | 1.000 | 2 | 2011 | 2012 | |||||||||||
|
7 | 156334552 | intergenic variant | G/A | snv | 0.40 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||||
|
0.790 | 0.160 | 15 | 78606381 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2011 | 2015 | |||||||||
|
4 | 144551492 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2015 | 2015 | |||||||||||
|
4 | 144521212 | intron variant | G/A | snv | 0.65 |
|
0.700 | 1.000 | 2 | 2015 | 2019 | ||||||||||
|
1.000 | 0.040 | 4 | 144585304 | intron variant | T/C | snv | 0.32 |
|
0.700 | 1.000 | 2 | 2015 | 2019 | ||||||||
|
1.000 | 0.040 | 4 | 144524627 | intron variant | A/T | snv | 0.31 |
|
0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
1.000 | 0.040 | 3 | 25479091 | intron variant | C/A;T | snv |
|
0.800 | 1.000 | 2 | 2012 | 2019 | |||||||||
|
0.695 | 0.400 | 5 | 148827322 | missense variant | C/T | snv | 9.1E-03 | 9.1E-03 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | |||||||
|
1.000 | 0.040 | 4 | 144564586 | intron variant | C/T | snv | 0.31 |
|
0.800 | 1.000 | 2 | 2012 | 2015 | ||||||||
|
0.851 | 0.080 | 15 | 78559273 | regulatory region variant | G/A | snv | 0.29 |
|
0.700 | 1.000 | 2 | 2011 | 2015 | ||||||||
|
0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | |||||||
|
22 | 27785411 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 2 | 2017 | 2019 | |||||||||||
|
10 | 76552244 | intron variant | G/A | snv | 0.44 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||||
|
6 | 108946847 | intron variant | C/T | snv | 0.15 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||||
|
0.827 | 0.320 | 6 | 31600692 | intergenic variant | G/A | snv | 0.27 |
|
0.800 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
0.827 | 0.120 | 4 | 88948181 | intron variant | T/C | snv | 0.49 |
|
0.800 | 1.000 | 2 | 2012 | 2015 | ||||||||
|
0.708 | 0.320 | 14 | 94378610 | missense variant | C/G;T | snv | 2.8E-05; 1.1E-02 |
|
0.700 | 1.000 | 2 | 2015 | 2018 |