| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.080 | 7 | 18591621 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.040 | 19 | 2014038 | non coding transcript exon variant | A/G | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.040 | 16 | 24566445 | intron variant | T/G | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.040 | 7 | 55091656 | intron variant | A/G;T | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.763 | 0.120 | 10 | 87864059 | 5 prime UTR variant | -/G | delins | 7.2E-06 |
|
0.010 | < 0.001 | 1 | 2007 | 2007 | ||||||||
|
0.925 | 0.120 | 9 | 21968756 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.683 | 0.240 | 17 | 7673781 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.724 | 0.160 | 7 | 55191831 | missense variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.689 | 0.200 | 15 | 90088606 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2007 | 2007 | ||||||||
|
0.708 | 0.440 | 12 | 112450406 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.040 | 12 | 75848895 | intron variant | A/G | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.080 | 1 | 22784698 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 20 | 3671756 | missense variant | T/C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.882 | 0.120 | 4 | 177339718 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.882 | 0.040 | 1 | 64763616 | intron variant | T/C | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.790 | 0.200 | 14 | 80211923 | 5 prime UTR variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.040 | 8 | 38429805 | missense variant | T/C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.040 | 1 | 169376605 | missense variant | T/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 |