| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 8 | 105346392 | intron variant | A/T | snv | 8.0E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 16 | 72959537 | synonymous variant | G/A | snv |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 0.080 | 22 | 41323244 | intron variant | C/T | snv | 4.2E-02 |
|
0.700 | 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 | ||||||||
|
1.000 | 0.080 | 1 | 203832121 | intron variant | T/C | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 3 | 141394018 | intron variant | TTT/-;T;TT;TTTT;TTTTT | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 6 | 28594471 | intron variant | G/- | delins | 5.1E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 17 | 59367748 | intron variant | T/C | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 19 | 19535463 | intron variant | T/C | snv | 0.39 | 0.43 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.732 | 0.200 | 22 | 21630090 | upstream gene variant | G/A | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 11 | 102109604 | non coding transcript exon variant | C/A | snv | 0.54 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 11 | 102205922 | missense variant | C/T | snv | 5.4E-04 | 7.0E-04 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.724 | 0.320 | 22 | 41620695 | intron variant | C/A;G | snv |
|
0.040 | 1.000 | 4 | 2012 | 2015 | |||||||||
|
0.752 | 0.320 | 22 | 41621260 | 5 prime UTR variant | A/G | snv | 0.83 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.752 | 0.320 | 22 | 41619761 | intron variant | C/T | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 22 | 41663764 | synonymous variant | G/A;T | snv | 8.0E-05; 0.29 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 22 | 41642782 | intron variant | C/T | snv | 3.9E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.827 | 0.160 | 2 | 216108009 | intron variant | G/T | snv | 0.37 |
|
0.020 | 1.000 | 2 | 2009 | 2012 | ||||||||
|
0.776 | 0.240 | 2 | 216109091 | splice region variant | C/T | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.120 | 2 | 216201914 | intron variant | G/A | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.776 | 0.240 | 2 | 216196997 | intron variant | A/G | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.701 | 0.280 | 5 | 83075927 | intron variant | T/G | snv | 9.2E-02 |
|
0.020 | 0.500 | 2 | 2012 | 2018 | ||||||||
|
0.724 | 0.320 | 5 | 83076846 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.742 | 0.240 | 5 | 83076927 | intron variant | C/T | snv | 1.7E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.689 | 0.280 | 5 | 83204915 | missense variant | G/T | snv | 2.3E-02 | 1.4E-02 |
|
0.030 | 0.333 | 3 | 2012 | 2018 |