| 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 | 13 | 113040195 | intron variant | A/G | snv | 0.12 |
|
0.810 | 1.000 | 2 | 2011 | 2015 | ||||||||
|
0.925 | 0.040 | 19 | 2177194 | intron variant | C/A;G;T | snv |
|
0.810 | 1.000 | 2 | 2012 | 2018 | |||||||||
|
1.000 | 0.040 | 7 | 107297975 | intron variant | A/C | snv | 0.20 |
|
0.810 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 7 | 107567250 | intron variant | A/G | snv | 0.12 |
|
0.810 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.040 | 6 | 44809954 | intron variant | A/G | snv | 0.27 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.080 | 3 | 52687289 | missense variant | G/A | snv | 0.38 | 0.33 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 1 | 219500486 | intergenic variant | G/A | snv | 0.43 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 20 | 47466905 | intergenic variant | G/A | snv | 5.0E-02 |
|
0.720 | 1.000 | 3 | 2014 | 2018 | ||||||||
|
0.882 | 0.040 | 12 | 27862037 | regulatory region variant | G/T | snv | 0.12 |
|
0.710 | 1.000 | 2 | 2012 | 2018 | ||||||||
|
0.882 | 0.040 | 22 | 41238083 | frameshift variant | -/GCCCGCGC | delins | 4.8E-03 | 1.2E-02 |
|
0.710 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.040 | 1 | 219467338 | intergenic variant | A/C;G | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
0.925 | 0.040 | 2 | 70490521 | intron variant | A/G | snv | 0.60 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
1.000 | 0.040 | 2 | 181487841 | intron variant | T/C | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 1 | 245587630 | intron variant | T/G | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 12 | 47995860 | intron variant | A/C | snv | 0.74 | 0.79 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 18 | 23390742 | intron variant | G/A | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 12 | 123218875 | intron variant | -/TGT;TGTTGT | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 6 | 44720220 | intergenic variant | T/C | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 9 | 4291928 | intron variant | A/C | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 11 | 30752733 | intergenic variant | G/C;T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 12 | 78038275 | intron variant | A/C | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 16 | 89637957 | missense variant | G/A;C | snv | 1.3E-05; 0.26 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 7 | 96090522 | intron variant | A/-;AA;AAA;AAAA | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 11 | 76795528 | intron variant | T/A | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.040 | 6 | 26123274 | intron variant | T/C | snv | 3.6E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |