| 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 | 0.160 | 11 | 17395659 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
1.000 | 0.040 | 13 | 33015697 | upstream gene variant | A/- | del | 0.21 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.732 | 0.360 | 1 | 55063514 | missense variant | G/A | snv | 0.95 | 0.90 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
1.000 | 0.040 | 11 | 17463515 | missense variant | G/A | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.925 | 0.120 | 21 | 36135203 | missense variant | G/A;C | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 |
|
0.020 | 1.000 | 2 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 21 | 43992991 | downstream gene variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 7 | 151716108 | intron variant | T/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.200 | 2 | 210675783 | missense variant | C/A | snv | 0.30 | 0.33 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.120 | 12 | 120989017 | stop gained | C/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 1 | 116384040 | synonymous variant | A/G | snv | 1.3E-03 | 1.4E-03 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.160 | 9 | 22088261 | intron variant | C/T | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 5 | 34504693 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.752 | 0.160 | 8 | 27607002 | intron variant | T/C | snv | 0.56 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1 | 62596235 | intron variant | C/T | snv | 0.39 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.851 | 0.160 | 5 | 173045049 | regulatory region variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 6 | 30830920 | upstream gene variant | C/T | snv | 7.9E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 16 | 20356323 | upstream gene variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 4 | 76490987 | intron variant | G/A | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 6 | 26015261 | upstream gene variant | G/A | snv | 5.6E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 6 | 160236104 | intron variant | GTT/- | delins | 9.8E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 19 | 35058218 | intron variant | C/A;T | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 9 | 68818296 | intron variant | G/A | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 7 | 114389196 | intron variant | A/G | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.724 | 0.400 | 6 | 32182519 | intron variant | C/A | snv | 0.12 | 0.12 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |