| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.040 | 11 | 123679999 | downstream gene variant | -/A | delins | 9.2E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 13 | 73887725 | intron variant | -/A;AA | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.040 | 4 | 40985283 | intron variant | A/-;AA;AAA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.120 | 18 | 26940224 | intron variant | A/-;AA;AAA;AAAA | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 5 | 165096466 | intron variant | A/C | snv | 0.61 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
1.000 | 0.040 | 7 | 82820719 | 3 prime UTR variant | A/C | snv | 0.57 |
|
0.800 | 1.000 | 2 | 2009 | 2011 | ||||||||
|
1.000 | 0.040 | 15 | 37356201 | intergenic variant | A/C | snv | 0.48 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
1.000 | 0.040 | 10 | 4617005 | intergenic variant | A/C | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 10 | 4603975 | intergenic variant | A/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 11 | 47814169 | intron variant | A/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.040 | 18 | 55399097 | intron variant | A/C | snv | 6.3E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 3 | 52675243 | intron variant | A/C | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 16 | 21628389 | intron variant | A/C | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 13 | 53072913 | intergenic variant | A/C | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 4 | 42121711 | intron variant | A/C | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.040 | 8 | 32840440 | intron variant | A/C | snv | 8.6E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 11 | 25863658 | intergenic variant | A/C | snv | 1.2E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 6 | 108086458 | intron variant | A/C | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 3 | 52787161 | intron variant | A/C | snv | 0.38 | 0.37 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.827 | 0.080 | 7 | 82824392 | missense variant | A/C | snv | 0.45 | 0.34 |
|
0.780 | 1.000 | 1 | 2009 | 2017 | |||||||
|
1.000 | 0.040 | 19 | 33829949 | intergenic variant | A/C | snv | 0.41 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 12 | 23794803 | intron variant | A/C | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 3 | 52617950 | intron variant | A/C | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 12 | 2223227 | intron variant | A/C | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 1 | 151394018 | intergenic variant | A/C | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |