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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.160 | 1 | 100718269 | upstream gene variant | T/C | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2015 | 2019 | |||||||
|
1.000 | 0.040 | 11 | 102724935 | 5 prime UTR variant | C/G | snv | 0.92 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.776 | 0.360 | 11 | 102725749 | intron variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.120 | 11 | 102836608 | non coding transcript exon variant | C/A | snv | 0.54 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.827 | 0.160 | 11 | 102838056 | intron variant | G/A | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.716 | 0.360 | 11 | 102842889 | missense variant | T/C | snv | 0.58 | 0.57 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.851 | 0.040 | 11 | 102845217 | upstream gene variant | A/-;AA | delins |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.716 | 0.400 | 11 | 102865911 | missense variant | T/C;G | snv | 7.1E-02; 2.5E-04 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.040 | 12 | 106111556 | intron variant | T/G | snv | 0.28 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 1 | 109914244 | intron variant | C/A;T | snv | 0.22 | 0.25 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.040 | 1 | 109917151 | intron variant | C/T | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 1 | 109923844 | missense variant | T/C | snv | 0.38 | 0.39 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 |
|
0.020 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 |
|
0.040 | 0.750 | 4 | 2016 | 2019 | |||||||
|
0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 |
|
0.030 | 1.000 | 3 | 2014 | 2019 | ||||||||
|
0.827 | 0.120 | 9 | 117701903 | upstream gene variant | G/A | snv | 0.52 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.658 | 0.640 | 9 | 117707776 | intron variant | A/G | snv | 0.62 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.320 | 9 | 117710486 | intron variant | C/T | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.742 | 0.360 | 9 | 117711921 | intron variant | T/G | snv | 0.54 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.040 | 0.750 | 4 | 2007 | 2016 | ||||||||
|
0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 |
|
0.020 | 0.500 | 2 | 2007 | 2007 |