| 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 | 0.120 | 1 | 26811902 | upstream gene variant | C/T | snv | 5.7E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1 | 183389270 | intron variant | C/T | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.120 | 1 | 26854576 | 3 prime UTR variant | C/T | snv | 6.1E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1 | 76433779 | intron variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
1.000 | 0.120 | 1 | 119714487 | splice region variant | T/C | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 1 | 238128048 | intergenic variant | C/G | snv | 0.83 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1 | 54151583 | intron variant | A/G | snv | 8.9E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.827 | 0.200 | 2 | 210675783 | missense variant | C/A | snv | 0.30 | 0.33 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 36922355 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
2 | 232655544 | intron variant | A/T | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.120 | 2 | 118661291 | regulatory region variant | A/G | snv | 1.1E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 2 | 11641492 | 3 prime UTR variant | T/C | snv | 1.0E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
2 | 204118831 | intergenic variant | T/C | snv | 3.6E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 149707970 | intron variant | C/T | snv | 8.6E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 0.040 | 2 | 31485750 | intergenic variant | G/A | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
2 | 169013785 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
3 | 120706484 | intron variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
3 | 149494481 | intron variant | G/A | snv | 1.9E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
3 | 136207780 | upstream gene variant | G/T | snv | 0.77 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.120 | 3 | 34149739 | intron variant | G/A | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
3 | 355870 | intron variant | A/G | snv | 0.87 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
4 | 87254878 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | 0.040 | 4 | 76495474 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
4 | 145900258 | intron variant | C/A | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.807 | 0.160 | 4 | 87292656 | intergenic variant | A/G | snv | 0.24 |
|
0.800 | 1.000 | 1 | 2011 | 2011 |