| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 32459228 | downstream gene variant | -/AC | delins | 0.72 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
16 | 80809337 | upstream gene variant | -/AG | delins | 0.17 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
13 | 109159737 | intron variant | -/C | delins | 0.25 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
5 | 150053837 | 3 prime UTR variant | -/C;T | ins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
17 | 50184820 | 3 prime UTR variant | -/CTTG | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
20 | 31813603 | upstream gene variant | -/G | ins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
16 | 85900909 | intron variant | -/T | delins | 0.15 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 89504600 | intron variant | -/T | delins | 0.70 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
4 | 82654059 | intron variant | A/C | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 226426699 | intergenic variant | A/C | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
3 | 128619757 | downstream gene variant | A/C | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1 | 235943941 | upstream gene variant | A/C | snv | 0.93 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.040 | 9 | 22162795 | intergenic variant | A/C | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
17 | 37491071 | intron variant | A/C | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.925 | 0.160 | 14 | 23120140 | upstream gene variant | A/C;G | snv |
|
0.700 | 1.000 | 2 | 2016 | 2018 | |||||||||
|
10 | 27068541 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
19 | 18287220 | upstream gene variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
22 | 24225858 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
0.882 | 0.120 | 3 | 42865620 | missense variant | A/C;T | snv | 0.43; 8.3E-03 |
|
0.700 | 1.000 | 3 | 2013 | 2018 | ||||||||
|
2 | 110993295 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
17 | 29738560 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
12 | 642453 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
2 | 224888625 | intron variant | A/G | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
10 | 97384397 | intron variant | A/G | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 31273862 | intron variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 |