| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.689 | 0.600 | 19 | 51693200 | non coding transcript exon variant | T/C | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.925 | 0.080 | 2 | 237539297 | intron variant | A/G | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.925 | 0.080 | 1 | 40514996 | missense variant | T/C | snv | 4.4E-02 | 4.4E-02 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.677 | 0.480 | 5 | 160467840 | intron variant | A/G | snv | 7.8E-02 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.925 | 0.080 | 21 | 45176099 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.925 | 0.080 | 21 | 38383632 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 |
|
0.020 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 19 | 1095515 | upstream gene variant | G/A | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.708 | 0.280 | 1 | 241878999 | missense variant | G/A | snv | 0.36 | 0.40 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.160 | 5 | 149732603 | intron variant | A/G | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 13 | 62947758 | intergenic variant | G/A | snv | 9.2E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.160 | 4 | 73743328 | 3 prime UTR variant | A/T | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.200 | 15 | 60774317 | intron variant | C/T | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 19 | 50858075 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 8 | 127746615 | downstream gene variant | T/C | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 22 | 38742327 | missense variant | G/A;T | snv | 2.2E-02; 4.0E-06 |
|
0.710 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.752 | 0.400 | 20 | 32779273 | intron variant | G/A;C;T | snv |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 8 | 127730605 | non coding transcript exon variant | C/T | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.240 | 14 | 103699590 | intron variant | T/A;C | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 15 | 98961442 | 3 prime UTR variant | C/T | snv | 0.65 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.120 | 7 | 22730530 | intron variant | G/A | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.677 | 0.680 | 4 | 73741338 | intron variant | C/T | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.160 | 20 | 63696229 | 3 prime UTR variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.827 | 0.160 | 9 | 110257228 | upstream gene variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 |