| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.587 | 0.520 | 16 | 50712015 | missense variant | C/T | snv | 2.6E-02 | 2.9E-02 |
|
1.000 | 0.940 | 1 | 2001 | 2018 | |||||||
|
0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 |
|
1.000 | 0.949 | 1 | 2001 | 2019 | ||||||||
|
0.689 | 0.560 | 17 | 42362183 | intron variant | A/G | snv | 0.48 |
|
0.870 | 1.000 | 1 | 2008 | 2016 | ||||||||
|
0.776 | 0.360 | 1 | 67204530 | intron variant | G/A | snv | 0.30 |
|
0.860 | 1.000 | 1 | 2006 | 2019 | ||||||||
|
0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 |
|
0.850 | 1.000 | 1 | 2006 | 2020 | ||||||||
|
0.752 | 0.240 | 5 | 150843825 | upstream gene variant | T/C | snv | 0.21 |
|
0.850 | 1.000 | 1 | 2007 | 2015 | ||||||||
|
0.716 | 0.440 | 1 | 67228519 | intron variant | A/G;T | snv |
|
0.850 | 1.000 | 1 | 2006 | 2013 | |||||||||
|
0.742 | 0.320 | 9 | 114790605 | synonymous variant | T/C | snv | 0.71 | 0.75 |
|
0.850 | 1.000 | 1 | 2005 | 2018 | |||||||
|
0.925 | 0.040 | 5 | 150860514 | intron variant | C/T | snv | 0.13 |
|
0.840 | 1.000 | 1 | 2007 | 2015 | ||||||||
|
0.732 | 0.320 | 9 | 114806766 | upstream gene variant | T/C | snv | 0.74 |
|
0.840 | 1.000 | 1 | 2005 | 2018 | ||||||||
|
0.807 | 0.160 | 9 | 114804160 | intron variant | A/G | snv | 0.75 |
|
0.830 | 0.750 | 1 | 2008 | 2014 | ||||||||
|
0.807 | 0.200 | 16 | 50729868 | frameshift variant | C/-;CC | delins |
|
0.830 | 1.000 | 1 | 2007 | 2017 | |||||||||
|
0.752 | 0.320 | 9 | 114806486 | upstream gene variant | A/G | snv | 0.74 |
|
0.830 | 1.000 | 1 | 2005 | 2016 | ||||||||
|
0.882 | 0.040 | 9 | 114818634 | intergenic variant | C/G;T | snv |
|
0.830 | 1.000 | 1 | 2005 | 2015 | |||||||||
|
0.882 | 0.160 | 12 | 40208138 | non coding transcript exon variant | C/T | snv | 2.8E-02 |
|
0.820 | 1.000 | 1 | 2008 | 2013 | ||||||||
|
0.790 | 0.240 | 5 | 150879305 | intron variant | A/G | snv | 0.21 |
|
0.820 | 0.667 | 1 | 2008 | 2020 | ||||||||
|
0.925 | 0.080 | 9 | 114783386 | downstream gene variant | C/T | snv | 0.34 |
|
0.820 | 1.000 | 1 | 2005 | 2019 | ||||||||
|
1.000 | 0.040 | 2 | 233250193 | intron variant | C/A;T | snv |
|
0.810 | 1.000 | 1 | 2007 | 2010 | |||||||||
|
0.827 | 0.320 | 11 | 61790331 | non coding transcript exon variant | T/C | snv | 0.47 |
|
0.810 | 1.000 | 1 | 2010 | 2018 | ||||||||
|
0.827 | 0.160 | 10 | 99531836 | upstream gene variant | T/C | snv | 0.55 |
|
0.810 | 1.000 | 1 | 2008 | 2014 | ||||||||
|
0.925 | 0.120 | 11 | 73152652 | intergenic variant | A/G | snv | 2.3E-03 |
|
0.810 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 12 | 40398498 | intron variant | G/A | snv | 3.1E-02 |
|
0.810 | 1.000 | 1 | 2010 | 2018 | ||||||||
|
0.827 | 0.240 | 1 | 67209833 | intron variant | C/T | snv | 0.30 |
|
0.810 | 1.000 | 1 | 2007 | 2012 | ||||||||
|
1.000 | 0.040 | 5 | 132448701 | intron variant | G/T | snv | 0.28 |
|
0.810 | 1.000 | 1 | 2010 | 2012 | ||||||||
|
0.851 | 0.160 | 7 | 50230076 | intron variant | G/A | snv | 0.69 |
|
0.810 | 1.000 | 1 | 2008 | 2011 |