| 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 | 0.160 | 19 | 11113708 | frameshift variant | -/A | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 17 | 75569087 | frameshift variant | -/ACTT | delins |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.658 | 0.600 | 11 | 102845217 | upstream gene variant | -/C;G | ins | 2.8E-04 |
|
0.030 | 0.667 | 3 | 2015 | 2018 | ||||||||
|
0.925 | 0.160 | 19 | 11123284 | frameshift variant | -/GCTG | delins |
|
0.700 | 0 | ||||||||||||
|
0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins |
|
0.020 | 1.000 | 2 | 2010 | 2016 | |||||||||
|
0.882 | 0.120 | 20 | 35186731 | intron variant | A/- | delins | 0.40 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 10 | 84732025 | intergenic variant | A/C | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.160 | 2 | 9557243 | upstream gene variant | A/C | snv | 0.64 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 3 | 186833922 | intergenic variant | A/C | snv | 0.43 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 10 | 95069772 | upstream gene variant | A/C | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.160 | 6 | 1388953 | upstream gene variant | A/C | snv | 4.7E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 14 | 61457523 | synonymous variant | A/C | snv | 3.1E-02 | 1.6E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.200 | 12 | 120951159 | intron variant | A/C | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 19 | 15897578 | missense variant | A/C | snv | 0.16 | 0.18 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.776 | 0.320 | 8 | 118952749 | upstream gene variant | A/C | snv | 9.6E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 13 | 77900333 | intron variant | A/C | snv | 0.75 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 1 | 9152228 | intron variant | A/C | snv | 0.74 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 1 | 62594640 | intron variant | A/C | snv | 0.43 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 16 | 84985897 | intron variant | A/C | snv | 1.2E-02 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.160 | 19 | 22005907 | intron variant | A/C | snv | 0.59 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 6 | 106539495 | missense variant | A/C | snv | 0.93 | 0.93 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.080 | 13 | 110388451 | intron variant | A/C | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 1 | 156232382 | missense variant | A/C;G | snv | 1.0E-03; 0.38 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |