| 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 | 0.120 | 4 | 102363708 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.672 | 0.400 | 12 | 102399791 | 3 prime UTR variant | C/T | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 12 | 102400737 | 3 prime UTR variant | G/A | snv | 0.67 |
|
0.020 | 1.000 | 2 | 2013 | 2018 | ||||||||
|
0.807 | 0.280 | 12 | 102402744 | intron variant | G/C;T | snv | 0.76 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.240 | 12 | 102462924 | non coding transcript exon variant | C/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.040 | 12 | 102465050 | intron variant | G/C | snv | 2.8E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.240 | 12 | 102477481 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.763 | 0.360 | 12 | 102481791 | upstream gene variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
0.060 | 1.000 | 6 | 2011 | 2017 | |||||||||
|
0.763 | 0.280 | 11 | 102530930 | upstream gene variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.080 | 4 | 102585287 | intron variant | T/C | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.716 | 0.360 | 11 | 102713373 | missense variant | T/G | snv | 6.0E-02 | 9.8E-02 |
|
0.030 | 1.000 | 3 | 2018 | 2019 | |||||||
|
0.716 | 0.360 | 11 | 102713445 | missense variant | A/G | snv | 2.5E-03 | 6.2E-04 |
|
0.020 | 1.000 | 2 | 2018 | 2018 | |||||||
|
0.732 | 0.200 | 11 | 102718452 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 11 | 102722517 | missense variant | T/C;G | snv | 0.54 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.776 | 0.360 | 11 | 102725749 | intron variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.280 | 19 | 10279982 | intron variant | C/G | snv | 0.52 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.637 | 0.560 | 19 | 10284116 | missense variant | G/A | snv | 0.11 | 9.3E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.701 | 0.280 | 13 | 102844409 | intron variant | C/T | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.724 | 0.360 | 13 | 102845848 | 5 prime UTR variant | A/G | snv | 0.76 |
|
0.040 | 1.000 | 4 | 2012 | 2017 | ||||||||
|
0.695 | 0.280 | 13 | 102846025 | 5 prime UTR variant | T/C | snv | 0.38 |
|
0.050 | 1.000 | 5 | 2012 | 2017 | ||||||||
|
0.695 | 0.320 | 13 | 102852167 | synonymous variant | T/C | snv | 0.52 | 0.59 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.790 | 0.240 | 13 | 102862735 | missense variant | G/A;C | snv | 4.3E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.160 | 3 | 10287125 | non coding transcript exon variant | T/C | snv | 8.3E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 |
|
0.050 | 0.800 | 5 | 2012 | 2018 |