| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
1 | 109928142 | intron variant | G/A | snv | 0.13 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
1 | 159205704 | missense variant | C/T | snv | 1.1E-02 | 9.9E-03 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
7 | 44969742 | missense variant | A/G | snv | 0.87 | 0.88 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
1 | 247876149 | missense variant | C/T | snv | 0.31 | 0.26 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
1.000 | 0.080 | 19 | 43648948 | missense variant | A/G | snv | 0.12 | 0.11 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
19 | 1026478 | upstream gene variant | G/T | snv | 0.65 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
0.925 | 0.080 | 6 | 135105435 | upstream gene variant | A/G | snv | 0.21 |
|
0.700 | 1.000 | 2 | 2010 | 2014 | ||||||||
|
4 | 74105479 | intergenic variant | G/A | snv | 0.57 |
|
0.700 | 1.000 | 2 | 2014 | 2018 | ||||||||||
|
4 | 709183 | intron variant | T/C | snv | 0.35 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
1 | 159313100 | downstream gene variant | TTTTTTTTTTTTTT/-;TTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTT | delins | 7.4E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
5 | 151187456 | missense variant | A/G | snv | 3.7E-02 | 4.6E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
1 | 23523531 | intron variant | G/C | snv | 0.50 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
1.000 | 0.080 | 2 | 113083453 | upstream gene variant | A/G | snv | 0.39 |
|
0.700 | 1.000 | 2 | 2014 | 2016 | ||||||||
|
0.925 | 0.040 | 2 | 181443625 | intergenic variant | A/G | snv | 0.57 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
9 | 21990458 | intron variant | C/T | snv | 0.74 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
0.851 | 0.040 | 13 | 28029870 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
0.776 | 0.240 | 5 | 1285859 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
8 | 60738272 | intron variant | A/T | snv | 0.27 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
11 | 108471137 | upstream gene variant | C/T | snv | 0.44 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
0.882 | 0.080 | 7 | 92606850 | 3 prime UTR variant | T/A;C;G | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
11 | 128459018 | 3 prime UTR variant | G/A;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||||
|
3 | 141487958 | intron variant | C/T | snv | 4.7E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
12 | 123936906 | 3 prime UTR variant | T/C | snv | 0.40 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
4 | 57019797 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 |