| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 16 | 4015582 | non coding transcript exon variant | A/G | snv | 0.51 |
|
0.710 | 1.000 | 1 | 2015 | 2017 | ||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.030 | 1.000 | 3 | 2004 | 2012 | ||||||||
|
0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 |
|
0.030 | 0.667 | 3 | 2011 | 2019 | |||||||
|
0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 |
|
0.020 | 1.000 | 2 | 2005 | 2017 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.020 | 1.000 | 2 | 2009 | 2015 | ||||||||
|
0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 |
|
0.020 | 1.000 | 2 | 2013 | 2014 | ||||||||
|
0.807 | 0.200 | 9 | 22124473 | intron variant | C/T | snv | 0.47 |
|
0.020 | 1.000 | 2 | 2013 | 2016 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2013 | 2017 | |||||||
|
0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 |
|
0.020 | 1.000 | 2 | 2013 | 2014 | ||||||||
|
0.620 | 0.720 | 3 | 39265671 | missense variant | G/A | snv | 0.14 | 0.12 |
|
0.020 | 1.000 | 2 | 2005 | 2018 | |||||||
|
0.695 | 0.520 | 9 | 22098575 | intron variant | A/G;T | snv |
|
0.020 | 1.000 | 2 | 2013 | 2014 | |||||||||
|
0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 |
|
0.020 | 1.000 | 2 | 2011 | 2018 | |||||||
|
0.807 | 0.200 | 6 | 150931849 | intron variant | G/A | snv | 0.35 |
|
0.020 | 1.000 | 2 | 2014 | 2015 | ||||||||
|
0.776 | 0.200 | 19 | 582927 | 3 prime UTR variant | T/A | snv | 0.39 |
|
0.020 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.776 | 0.320 | 13 | 30737959 | intron variant | A/T | snv | 0.52 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.701 | 0.320 | 9 | 22096056 | intron variant | A/G | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.040 | 9 | 22124631 | intron variant | A/G | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.724 | 0.280 | 12 | 10160849 | missense variant | C/G | snv | 0.11 | 0.13 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.882 | 0.040 | 7 | 106872566 | synonymous variant | C/T | snv | 0.32 | 0.26 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.240 | 1 | 19979653 | 5 prime UTR variant | G/C | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 15 | 90528542 | upstream gene variant | T/C | snv | 0.88 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.200 | 10 | 94780595 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.716 | 0.360 | 21 | 31659813 | missense variant | T/C;G | snv | 8.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |