| 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 | 0.080 | 10 | 27452030 | intergenic variant | C/T | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 4 | 22794376 | intron variant | G/A | snv | 7.4E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 20 | 46719767 | intron variant | C/A | snv | 5.8E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 9 | 6231239 | intron variant | A/G | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.790 | 0.160 | 5 | 132660753 | 3 prime UTR variant | A/G | snv | 0.81 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 19 | 48019433 | intron variant | T/- | del | 1.5E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 22 | 17685512 | intron variant | C/T | snv | 1.2E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 12 | 99392036 | intron variant | G/C | snv | 3.5E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 2 | 140665410 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 6 | 136006932 | intron variant | C/T | snv | 1.5E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 14 | 105694756 | intergenic variant | AAGA/- | delins | 1.2E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.120 | 6 | 31445184 | intron variant | T/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 5 | 31696629 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 3 | 159428036 | intron variant | A/G | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 2 | 102351825 | synonymous variant | T/C | snv | 0.34 | 0.46 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 7 | 11137720 | intron variant | G/A | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 6 | 25701740 | 3 prime UTR variant | T/-;TT;TTT | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 9 | 112563085 | intron variant | C/A | snv | 0.16 |
|
0.710 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 12 | 54081158 | intron variant | C/T | snv | 2.8E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 12 | 117321510 | intron variant | A/T | snv | 3.4E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.080 | 17 | 39900944 | downstream gene variant | G/A;T | snv |
|
0.800 | 1.000 | 1 | 2007 | 2018 | |||||||||
|
0.851 | 0.160 | 11 | 65784486 | upstream gene variant | A/G | snv | 0.44 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||
|
0.925 | 0.080 | 15 | 60777789 | intron variant | C/T | snv | 0.23 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 1 | 203124073 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||
|
0.882 | 0.120 | 11 | 118872577 | regulatory region variant | G/A | snv | 0.12 |
|
0.700 | 1.000 | 2 | 2019 | 2019 |