| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.200 | 20 | 54170358 | intron variant | C/T | snv | 0.46 |
|
0.020 | 0.500 | 2 | 2020 | 2020 | ||||||||
|
0.807 | 0.240 | 20 | 54169534 | intron variant | T/C | snv | 0.20 |
|
0.020 | 1.000 | 2 | 2020 | 2020 | ||||||||
|
0.925 | 0.080 | 7 | 127890817 | intron variant | A/G | snv | 1.7E-03 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.925 | 0.080 | 7 | 76304395 | downstream gene variant | T/G | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.080 | 12 | 108561382 | 5 prime UTR variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
0.925 | 0.080 | 15 | 51314872 | intron variant | C/T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.851 | 0.080 | 4 | 174540379 | non coding transcript exon variant | T/C | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.827 | 0.160 | 19 | 50406456 | missense variant | G/A | snv |
|
0.010 | < 0.001 | 1 | 2020 | 2020 | |||||||||
|
1.000 | 0.080 | 17 | 41521908 | intron variant | C/T | snv | 0.66 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.080 | 12 | 74538379 | synonymous variant | G/C | snv | 0.77 | 0.64 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.790 | 0.160 | 20 | 54171474 | intron variant | A/G | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.752 | 0.200 | 20 | 54164552 | synonymous variant | C/T | snv | 0.12 | 8.9E-02 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
1.000 | 0.080 | 1 | 109822839 | regulatory region variant | TGTAGGGGCACAGAGAGA/-;TGTAGGGGCACAGAGAGATGTAGGGGCACAGAGAGA | delins |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
0.882 | 0.120 | 16 | 68784487 | intron variant | C/T | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.080 | 12 | 25208712 | 3 prime UTR variant | T/C | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.080 | 12 | 25206009 | 3 prime UTR variant | T/C | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.695 | 0.320 | 11 | 35154612 | intron variant | T/C | snv | 0.37 |
|
0.020 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.851 | 0.160 | 19 | 10489766 | synonymous variant | G/C | snv | 0.41 | 0.48 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 14 | 75280415 | 5 prime UTR variant | G/T | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 17 | 7674971 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.080 | 9 | 97700127 | non coding transcript exon variant | T/C | snv | 3.2E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 11 | 2000395 | intron variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 19 | 10489289 | synonymous variant | G/A | snv | 4.2E-02 | 1.6E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |