| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 2 | 158102039 | frameshift variant | -/A | ins | 8.0E-05; 6.3E-02 | 0.10 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.040 | 3 | 12022928 | intron variant | -/ACA | delins | 0.64 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.030 | 1.000 | 3 | 2001 | 2011 | |||||||||
|
0.790 | 0.280 | 13 | 32332796 | frameshift variant | -/CT | ins |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.790 | 0.160 | 11 | 113475529 | intron variant | -/G | delins |
|
0.050 | 1.000 | 5 | 2007 | 2019 | |||||||||
|
1.000 | 0.040 | 15 | 73633678 | 5 prime UTR variant | A/- | del | 1.4E-02 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.882 | 0.120 | 6 | 15544505 | intron variant | A/C | snv | 0.36 |
|
0.030 | 1.000 | 3 | 2010 | 2011 | ||||||||
|
1.000 | 0.040 | 22 | 49824963 | intron variant | A/C | snv | 0.36 |
|
0.820 | 0.667 | 2 | 2010 | 2017 | ||||||||
|
0.763 | 0.320 | 17 | 30197993 | 3 prime UTR variant | A/C | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 6 | 7877186 | intron variant | A/C | snv | 0.54 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 12 | 13878511 | intron variant | A/C | snv | 0.59 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.776 | 0.360 | 6 | 22303975 | intron variant | A/C | snv | 0.65 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 12 | 51685722 | intron variant | A/C | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.827 | 0.120 | 15 | 78575140 | intron variant | A/C | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 13 | 105475787 | intron variant | A/C | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.040 | 21 | 46443844 | missense variant | A/C | snv | 0.22 | 0.18 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.040 | 11 | 124748043 | intron variant | A/C | snv | 0.21 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 18 | 53530928 | 3 prime UTR variant | A/C | snv | 0.84 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.827 | 0.080 | 6 | 15653418 | intron variant | A/C | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.851 | 0.120 | 2 | 207517878 | intron variant | A/C | snv | 0.17 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.120 | 11 | 77322663 | 3 prime UTR variant | A/C | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 13 | 105594285 | intergenic variant | A/C | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.040 | 8 | 142231572 | intron variant | A/C | snv | 0.68 |
|
0.810 | 1.000 | 1 | 2013 | 2019 | ||||||||
|
0.882 | 0.160 | 17 | 4723059 | downstream gene variant | A/C | snv | 0.73 |
|
0.010 | < 0.001 | 1 | 2007 | 2007 | ||||||||
|
0.851 | 0.160 | 17 | 65230912 | downstream gene variant | A/C | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2015 | 2015 |