| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.742 | 0.320 | 11 | 76590272 | upstream gene variant | C/T | snv | 0.35 |
|
0.050 | 0.800 | 5 | 2010 | 2017 | ||||||||
|
0.882 | 0.080 | 14 | 21431511 | frameshift variant | GAGAGCTTGGCAGTCCA/- | delins |
|
0.700 | 1.000 | 4 | 2012 | 2016 | |||||||||
|
0.807 | 0.280 | 15 | 89326678 | frameshift variant | A/- | delins |
|
0.700 | 1.000 | 3 | 2010 | 2017 | |||||||||
|
0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv |
|
0.700 | 1.000 | 2 | 2013 | 2014 | |||||||||
|
0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv |
|
0.020 | 1.000 | 2 | 2016 | 2020 | |||||||||
|
0.627 | 0.560 | 5 | 132657117 | non coding transcript exon variant | C/G;T | snv |
|
0.020 | 0.500 | 2 | 2011 | 2011 | |||||||||
|
0.790 | 0.240 | 5 | 111066174 | upstream gene variant | T/C | snv | 0.72 |
|
0.020 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
0.742 | 0.360 | 12 | 57108399 | intron variant | C/T | snv | 0.32 |
|
0.020 | 1.000 | 2 | 2013 | 2015 | ||||||||
|
0.925 | 0.120 | 1 | 152205542 | intron variant | C/G;T | snv |
|
0.020 | 0.500 | 2 | 2010 | 2013 | |||||||||
|
1.000 | 0.040 | 14 | 35395672 | intergenic variant | G/T | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 7 | 20536128 | intergenic variant | C/A;T | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 7 | 28102567 | intron variant | G/T | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.160 | 7 | 17298523 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 2 | 198016459 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 2 | 8526108 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 17 | 45378874 | intergenic variant | A/G | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 1 | 159279069 | non coding transcript exon variant | C/T | snv | 8.3E-02 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.120 | 3 | 196049444 | 3 prime UTR variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.120 | 15 | 60776505 | intron variant | G/A | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.776 | 0.240 | 12 | 57095926 | 3 prime UTR variant | T/C | snv | 8.0E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 9 | 16730976 | intron variant | A/G | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.160 | 11 | 65791795 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 10 | 62616798 | intron variant | T/C | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 1 | 2579316 | upstream gene variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 3 | 187711669 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 |