| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.200 | 17 | 43091614 | frameshift variant | AA/- | del |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | 13 | 32362574 | stop gained | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.280 | 13 | 32333284 | frameshift variant | A/-;AA | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | 13 | 32340837 | frameshift variant | ACAA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | 13 | 32332429 | frameshift variant | A/-;AA | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 22 | 28710005 | splice donor variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 1 | 204546897 | intron variant | A/G | snv | 0.65 | 0.57 |
|
0.810 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 10 | 112974337 | intron variant | A/C;G | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | 1 | 84156830 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.080 | 1 | 87313534 | intergenic variant | G/T | snv | 0.19 |
|
0.710 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.120 | 2 | 212432139 | intron variant | T/C | snv | 0.10 |
|
0.710 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 6 | 151633699 | TF binding site variant | A/G | snv | 1.1E-02 |
|
0.710 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 21 | 34738904 | upstream gene variant | T/C | snv | 2.5E-02 |
|
0.710 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.080 | 20 | 34000289 | intron variant | T/C;G | snv |
|
0.710 | < 0.001 | 1 | 2012 | 2012 | |||||||||
|
0.882 | 0.120 | 10 | 121586602 | intron variant | G/A | snv | 0.54 |
|
0.710 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.080 | 1 | 213850882 | intron variant | G/T | snv | 0.62 |
|
0.710 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 1 | 203797203 | 5 prime UTR variant | A/G | snv | 0.14 |
|
0.710 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.752 | 0.200 | 17 | 43093844 | stop gained | G/A;C | snv | 2.8E-05; 4.0E-06 |
|
0.710 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.827 | 0.200 | 17 | 43049188 | missense variant | A/C;G;T | snv | 8.0E-06 |
|
0.710 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 19 | 51942133 | intron variant | T/C | snv | 0.24 |
|
0.710 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 4 | 88322666 | intron variant | C/T | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 8 | 127359926 | intron variant | A/G | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 2 | 19212878 | intron variant | G/C;T | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 7 | 94758031 | intergenic variant | G/T | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 14 | 68205006 | intron variant | C/A | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |