| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 21 | 42363329 | missense variant | C/A | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 5 | 112838233 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 16 | 68812189 | frameshift variant | T/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.240 | 16 | 23614089 | frameshift variant | T/- | delins | 1.2E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 12 | 109903156 | missense variant | T/C | snv | 6.5E-04 | 1.7E-04 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 19 | 1223035 | missense variant | C/G;T | snv | 9.2E-06 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 5 | 112839106 | missense variant | G/A | snv | 1.6E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 16 | 68810224 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 4 | 124530209 | intron variant | G/A | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.080 | 10 | 94309297 | intron variant | T/G | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.701 | 0.280 | 1 | 155216951 | non coding transcript exon variant | G/A;T | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 2 | 234557214 | regulatory region variant | A/G | snv | 8.1E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 1 | 155215184 | non coding transcript exon variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.807 | 0.120 | 7 | 21544470 | intron variant | G/A | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 6 | 41037763 | intron variant | T/C | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.120 | 20 | 31411284 | intron variant | C/T | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.752 | 0.240 | 6 | 40568389 | intron variant | G/A | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 5 | 112838953 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.120 | 12 | 111335541 | intron variant | T/C | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 5 | 40726036 | intron variant | C/A;T | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.080 | 3 | 94389819 | intergenic variant | G/A | snv | 0.89 |
|
0.700 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.080 | 5 | 89607147 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 9 | 133251249 | non coding transcript exon variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 |