| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | 1 | 45331514 | frameshift variant | -/CC | delins | 1.6E-04 | 2.7E-04 |
|
0.700 | 1.000 | 6 | 2004 | 2012 | |||||||
|
0.925 | 0.120 | 1 | 45331676 | stop gained | G/A | snv | 1.2E-05 |
|
0.700 | 1.000 | 6 | 2005 | 2009 | ||||||||
|
0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 |
|
0.800 | 0.941 | 5 | 2002 | 2019 | |||||||
|
0.763 | 0.200 | 1 | 221991606 | regulatory region variant | A/G | snv | 0.20 |
|
0.840 | 1.000 | 5 | 2010 | 2019 | ||||||||
|
0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 |
|
0.800 | 1.000 | 4 | 2002 | 2019 | |||||||
|
0.851 | 0.160 | 1 | 45331529 | missense variant | G/A | snv | 7.2E-05 | 2.8E-05 |
|
0.700 | 1.000 | 4 | 2005 | 2010 | |||||||
|
0.882 | 0.120 | 1 | 45331700 | frameshift variant | G/- | delins | 6.4E-05 | 4.2E-05 |
|
0.700 | 1.000 | 4 | 2006 | 2009 | |||||||
|
0.882 | 0.120 | 1 | 45334493 | stop gained | G/A;C | snv | 8.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 4 | 2008 | 2009 | ||||||||
|
0.925 | 0.120 | 1 | 45332440 | stop gained | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 4 | 2005 | 2009 | ||||||||
|
0.882 | 0.120 | 1 | 45331558 | splice acceptor variant | T/C | snv | 2.4E-05 | 7.0E-06 |
|
0.700 | 1.000 | 3 | 2004 | 2005 | |||||||
|
0.790 | 0.080 | 1 | 183112059 | intron variant | A/C | snv | 0.37 |
|
0.800 | 1.000 | 2 | 2013 | 2019 | ||||||||
|
0.790 | 0.080 | 1 | 22261235 | regulatory region variant | T/C | snv | 6.2E-02 |
|
0.710 | 1.000 | 2 | 2015 | 2019 | ||||||||
|
0.701 | 0.280 | 1 | 155216951 | non coding transcript exon variant | G/A;T | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.708 | 0.280 | 1 | 210816167 | intron variant | T/G | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.080 | 1 | 54782179 | intron variant | A/G | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.776 | 0.080 | 1 | 54780362 | 3 prime UTR variant | T/C | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 1 | 184433374 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.776 | 0.080 | 1 | 221939292 | intron variant | A/G | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.708 | 0.280 | 1 | 1351675 | upstream gene variant | G/A | snv | 6.8E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.080 | 1 | 245018119 | intron variant | T/C | snv | 1.5E-04 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.080 | 1 | 239918447 | upstream gene variant | A/C | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.708 | 0.280 | 1 | 155212052 | non coding transcript exon variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.790 | 0.080 | 1 | 67729450 | intron variant | C/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.776 | 0.080 | 1 | 37990219 | upstream gene variant | G/C | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.080 | 1 | 183056420 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 |