| 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 | 0.120 | 1 | 152286602 | intron variant | A/G | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 2 | 70872975 | intergenic variant | A/G | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 11 | 111563369 | downstream gene variant | T/C | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.120 | 17 | 40608272 | TF binding site variant | T/A | snv | 1.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 6 | 209159 | upstream gene variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 10 | 8563590 | intergenic variant | G/C;T | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 1 | 160612458 | intron variant | C/G | snv | 0.45 | 0.36 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.120 | 1 | 152313436 | missense variant | G/A;C;T | snv | 6.0E-04; 4.0E-06; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.742 | 0.360 | 8 | 6877877 | 5 prime UTR variant | C/T | snv | 0.43 | 0.40 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.040 | 1 | 64848529 | intron variant | C/A | snv | 7.3E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 1 | 1206007 | intron variant | C/T | snv | 6.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.672 | 0.520 | 3 | 132675903 | missense variant | G/A;T | snv | 1.9E-03; 4.1E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 1 | 45535906 | downstream gene variant | G/A | snv | 1.2E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 1 | 152027641 | intron variant | G/A | snv | 2.5E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 1 | 149981477 | intron variant | G/A | snv | 1.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 9 | 128721272 | missense variant | T/A;C | snv | 7.4E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.695 | 0.400 | 2 | 138002079 | missense variant | C/T | snv | 1.0E-01 | 8.4E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.120 | 1 | 152312410 | stop gained | G/A;C | snv | 6.0E-04 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.200 | 1 | 152313454 | missense variant | G/A | snv | 0.27 | 0.19 |
|
0.040 | 1.000 | 4 | 2011 | 2015 | |||||||
|
1.000 | 0.040 | 14 | 92558117 | intron variant | G/A | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.120 | 9 | 137605991 | intron variant | G/A | snv | 2.7E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 4 | 4766748 | intron variant | T/G | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 8 | 128682763 | intron variant | T/C | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 19 | 33235671 | TF binding site variant | G/A | snv | 5.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 3 | 23526489 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 |