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 | 0.120 | 2 | 218261086 | 5 prime UTR variant | C/T | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.683 | 0.320 | 9 | 22125348 | intron variant | A/C | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.882 | 0.160 | 12 | 47844285 | 3 prime UTR variant | C/A | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.080 | 18 | 60371544 | missense variant | A/T | snv | 1.0E-03 | 1.1E-04 |
|
0.710 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.851 | 0.240 | 7 | 141972804 | missense variant | T/C | snv | 0.49 | 0.47 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 11 | 112096881 | intron variant | A/G | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 17 | 17521019 | intron variant | G/A | snv | 0.83 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 1 | 39035577 | downstream gene variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 19 | 48758426 | upstream gene variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.120 | 4 | 39420199 | intron variant | G/T | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.120 | 2 | 1917238 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.160 | 5 | 8127718 | intergenic variant | T/G | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 16 | 53691058 | intron variant | A/G | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 18 | 60372261 | missense variant | G/A | snv | 9.5E-05 | 7.0E-05 |
|
0.710 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.708 | 0.320 | 6 | 35639794 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.807 | 0.200 | 17 | 7676483 | 5 prime UTR variant | G/A;C;T | snv | 1.2E-05; 0.67; 2.8E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.605 | 0.800 | 7 | 22726602 | non coding transcript exon variant | A/G | snv | 0.72 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.763 | 0.360 | 3 | 165773492 | missense variant | C/T | snv | 0.18 | 0.18 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.120 | 7 | 22731537 | missense variant | C/G;T | snv | 4.4E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 11 | 113418344 | intron variant | C/T | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.240 | 16 | 57413502 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 18 | 60161404 | upstream gene variant | G/A | snv | 0.43 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 16 | 53833547 | intron variant | C/T | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 9 | 63957 | intron variant | C/A | snv |
|
0.010 | < 0.001 | 1 | 2019 | 2019 |