| 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 | 0.080 | 3 | 189625454 | intergenic variant | A/-;AA;AAA;AAAA | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 6 | 31208169 | downstream gene variant | A/C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.080 | 6 | 30064745 | 3 prime UTR variant | A/C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 1 | 89907211 | intron variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.708 | 0.280 | 6 | 29785031 | intergenic variant | A/G | snv |
|
0.700 | 1.000 | 2 | 2016 | 2017 | |||||||||
|
1.000 | 0.080 | 14 | 33545815 | intron variant | A/G | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 9 | 133640119 | intron variant | A/G | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.708 | 0.280 | 6 | 31347004 | intron variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 6 | 28237041 | downstream gene variant | A/G | snv | 5.2E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 6 | 31466334 | non coding transcript exon variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 9 | 21670088 | intergenic variant | A/G | snv | 8.7E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 6 | 31657087 | intron variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.708 | 0.280 | 11 | 103745837 | intron variant | A/G | snv | 5.4E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 6 | 30540143 | downstream gene variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.708 | 0.280 | 11 | 103813371 | intron variant | A/G | snv | 7.2E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 5 | 42170776 | intergenic variant | A/G | snv | 5.7E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.701 | 0.280 | 3 | 169043635 | intergenic variant | A/G | snv | 4.2E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 |
|
0.720 | 1.000 | 1 | 2015 | 2019 | |||||||
|
1.000 | 0.080 | 6 | 27588362 | intergenic variant | A/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 4 | 51845211 | non coding transcript exon variant | A/T | snv | 4.5E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 13 | 83706928 | intergenic variant | A/T | snv | 7.6E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.677 | 0.440 | 4 | 105140377 | intron variant | C/A | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 2 | 65605243 | intron variant | C/A | snv | 0.99 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 6 | 32067917 | synonymous variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 6 | 29930083 | upstream gene variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 |