| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 54635119 | intergenic variant | -/A;ATTTTTTTTTA | ins | 0.43 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 218297998 | intron variant | -/C | ins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
10 | 97314229 | upstream gene variant | -/CAGGTTCAAGCGA | ins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
17 | 50184820 | 3 prime UTR variant | -/CTTG | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
19 | 48640988 | intron variant | -/G | ins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1 | 46130565 | intron variant | A/-;AA;AAA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
5 | 142130697 | intron variant | A/-;AA;AAA;AAAA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
2 | 113108257 | intron variant | A/C | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
17 | 59748211 | intron variant | A/C | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.925 | 0.080 | 15 | 41490486 | upstream gene variant | A/C | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
17 | 40021586 | intron variant | A/C | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
18 | 44461098 | intron variant | A/C | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
8 | 80557885 | upstream gene variant | A/C | snv | 0.22 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1 | 27859995 | intergenic variant | A/C | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
10 | 27068541 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
15 | 50766432 | upstream gene variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
15 | 50763625 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
5 | 132341949 | intron variant | A/G | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
8 | 7048518 | intergenic variant | A/G | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
4 | 74094279 | downstream gene variant | A/G | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 159848974 | intron variant | A/G | snv | 0.87 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 8853597 | upstream gene variant | A/G | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
16 | 249924 | intron variant | A/G | snv | 3.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
4 | 71752058 | intron variant | A/G | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
3 | 141208279 | intergenic variant | A/G | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |