| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.829 | 70 | 1999 | 2018 | |||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.100 | 0.806 | 31 | 2002 | 2019 | |||||||||
|
0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 |
|
0.800 | 1.000 | 13 | 2002 | 2019 | |||||||
|
0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 |
|
0.800 | 0.941 | 13 | 2002 | 2019 | |||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.100 | 0.818 | 11 | 2006 | 2019 | |||||||
|
0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 |
|
0.070 | 0.714 | 7 | 2005 | 2013 | |||||||
|
0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 |
|
0.060 | 0.833 | 6 | 2008 | 2019 | |||||||
|
0.630 | 0.440 | 1 | 225838705 | missense variant | A/G;T | snv | 0.19; 2.8E-05 |
|
0.060 | 0.667 | 6 | 2005 | 2013 | ||||||||
|
0.672 | 0.360 | 1 | 45331833 | missense variant | C/A;G | snv | 0.29 | 0.27 |
|
0.060 | 0.833 | 6 | 2008 | 2018 | |||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.050 | 0.600 | 5 | 1999 | 2013 | |||||||
|
0.776 | 0.120 | 1 | 202945228 | intron variant | T/C | snv | 0.53 |
|
0.040 | 1.000 | 4 | 2011 | 2015 | ||||||||
|
0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 |
|
0.040 | 1.000 | 4 | 2012 | 2014 | ||||||||
|
0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 |
|
0.040 | 0.750 | 4 | 2009 | 2014 | ||||||||
|
0.790 | 0.320 | 1 | 206766559 | upstream gene variant | G/A | snv | 0.11 |
|
0.040 | 1.000 | 4 | 2012 | 2015 | ||||||||
|
0.763 | 0.200 | 1 | 221991606 | regulatory region variant | A/G | snv | 0.20 |
|
0.840 | 1.000 | 4 | 2010 | 2019 | ||||||||
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.030 | 0.667 | 3 | 2010 | 2014 | |||||||
|
0.776 | 0.120 | 1 | 202952912 | intron variant | C/T | snv | 0.26 |
|
0.030 | 0.667 | 3 | 2011 | 2015 | ||||||||
|
0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 |
|
0.030 | 1.000 | 3 | 2016 | 2018 | ||||||||
|
0.776 | 0.080 | 1 | 221872104 | intergenic variant | G/T | snv | 0.34 |
|
0.830 | 0.667 | 3 | 2010 | 2013 | ||||||||
|
1.000 | 0.080 | 1 | 221724004 | intron variant | A/C;T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2015 | |||||||||
|
0.827 | 0.160 | 1 | 155134221 | 3 prime UTR variant | G/A | snv | 0.40 |
|
0.020 | 0.500 | 2 | 2013 | 2019 | ||||||||
|
0.732 | 0.360 | 1 | 236838504 | synonymous variant | C/T | snv | 1.6E-05 | 1.4E-05 |
|
0.020 | 1.000 | 2 | 2008 | 2013 | |||||||
|
0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv |
|
0.020 | 1.000 | 2 | 2009 | 2013 | |||||||||
|
0.752 | 0.280 | 1 | 45329400 | missense variant | C/T | snv | 2.0E-05 | 2.8E-05 |
|
0.020 | 0.500 | 2 | 2008 | 2013 | |||||||
|
0.732 | 0.240 | 1 | 155192276 | splice acceptor variant | C/A;T | snv | 0.59 |
|
0.020 | 0.500 | 2 | 2012 | 2015 |