| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.100 | 0.938 | 32 | 2004 | 2019 | |||||||||
|
0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins |
|
0.100 | 0.800 | 10 | 1997 | 2004 | |||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.090 | 0.889 | 9 | 2004 | 2014 | |||||||||
|
0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 |
|
0.070 | 1.000 | 7 | 2008 | 2013 | ||||||||
|
0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv |
|
0.060 | 1.000 | 6 | 2012 | 2015 | |||||||||
|
0.708 | 0.160 | 18 | 48927093 | intron variant | T/A;C | snv |
|
0.050 | 1.000 | 5 | 2008 | 2016 | |||||||||
|
0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv |
|
0.040 | 1.000 | 4 | 2015 | 2019 | |||||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.030 | 0.667 | 3 | 2005 | 2010 | |||||||||
|
0.790 | 0.120 | 7 | 55191837 | missense variant | G/A | snv |
|
0.030 | 1.000 | 3 | 2015 | 2018 | |||||||||
|
0.724 | 0.160 | 10 | 8659256 | upstream gene variant | G/A | snv | 0.24 |
|
0.020 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
0.925 | 0.080 | 3 | 122258435 | intron variant | G/T | snv | 0.30 |
|
0.020 | 1.000 | 2 | 2008 | 2017 | ||||||||
|
0.851 | 0.080 | 4 | 174540379 | non coding transcript exon variant | T/C | snv | 0.38 |
|
0.020 | 1.000 | 2 | 2013 | 2020 | ||||||||
|
0.695 | 0.280 | 11 | 111300984 | intron variant | C/A | snv | 0.71 |
|
0.020 | 1.000 | 2 | 2008 | 2013 | ||||||||
|
0.827 | 0.120 | 18 | 48932662 | intron variant | T/C | snv | 0.25 |
|
0.020 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
0.925 | 0.080 | 8 | 42283031 | intron variant | G/T | snv | 0.22 |
|
0.020 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv |
|
0.020 | 1.000 | 2 | 2008 | 2008 | |||||||||
|
0.925 | 0.080 | 3 | 122258079 | intron variant | G/A | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.742 | 0.160 | 19 | 33041394 | intron variant | C/T | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.790 | 0.200 | 15 | 33866065 | 3 prime UTR variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.080 | 10 | 52764898 | downstream gene variant | G/A | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.790 | 0.120 | 7 | 55174029 | missense variant | G/A | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.320 | 12 | 25225627 | missense variant | G/A | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 15 | 66481818 | missense variant | T/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 7 | 5987422 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 |