| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.040 | 8 | 76562310 | intron variant | T/G | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.040 | 8 | 80479448 | intron variant | G/T | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.040 | 7 | 50136567 | intron variant | A/G | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.080 | 19 | 4837545 | upstream gene variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.807 | 0.040 | 19 | 4837475 | upstream gene variant | A/G | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.040 | 6 | 31356838 | missense variant | C/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.080 | 9 | 16884588 | regulatory region variant | T/A;G | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
0.882 | 0.040 | 11 | 65873562 | 5 prime UTR variant | G/C | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.040 | 5 | 149817119 | intron variant | T/G | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.040 | 10 | 62642673 | intron variant | G/A | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.120 | 12 | 52519884 | missense variant | C/T | snv | 5.7E-02 | 5.3E-02 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | |||||||
|
0.683 | 0.320 | 11 | 89284793 | missense variant | G/A | snv | 0.18 | 0.18 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
0.882 | 0.040 | 3 | 188370530 | intron variant | T/C | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.040 | 5 | 44411963 | intron variant | G/A;C | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.080 | 7 | 29092663 | missense variant | A/G | snv | 2.2E-02 | 2.3E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.040 | 8 | 80477556 | intron variant | C/T | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.040 | 1 | 228858641 | downstream gene variant | C/T | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.649 | 0.320 | 6 | 396321 | intron variant | C/T | snv | 0.10 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.882 | 0.040 | 6 | 150032420 | upstream gene variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.807 | 0.040 | 6 | 475489 | non coding transcript exon variant | C/T | snv | 0.11 |
|
0.700 | 1.000 | 2 | 2011 | 2016 | ||||||||
|
0.882 | 0.040 | 2 | 11386590 | downstream gene variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.040 | 6 | 4979722 | downstream gene variant | C/T | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.040 | 7 | 130899925 | intron variant | C/G | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.742 | 0.080 | 15 | 28165345 | intron variant | C/T | snv | 0.50 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.851 | 0.040 | 2 | 201350769 | missense variant | C/G | snv | 0.62 | 0.63 |
|
0.700 | 1.000 | 1 | 2015 | 2015 |