| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 27068541 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
16 | 249924 | intron variant | A/G | snv | 3.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 31264212 | downstream gene variant | G/A | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 212617344 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
0.724 | 0.240 | 11 | 5227002 | missense variant | T/A;C;G | snv | 3.5E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
17 | 50184820 | 3 prime UTR variant | -/CTTG | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
9 | 121826025 | intron variant | G/T | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
12 | 41306962 | intron variant | C/T | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
16 | 243594 | intron variant | C/T | snv | 7.3E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
20 | 16755400 | intron variant | G/T | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
3 | 128599154 | intergenic variant | G/A | snv | 0.89 |
|
0.700 | 1.000 | 3 | 2016 | 2018 | ||||||||||
|
11 | 90142269 | intron variant | G/A | snv | 9.7E-02 |
|
0.700 | 1.000 | 2 | 2011 | 2018 | ||||||||||
|
3 | 3055243 | intron variant | A/G | snv | 0.88 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
2 | 144567410 | intron variant | T/C | snv | 0.14 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
8 | 129613918 | intron variant | G/A | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
6 | 31261530 | intergenic variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
15 | 50100624 | intron variant | A/T | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
6 | 109381824 | non coding transcript exon variant | A/G | snv | 4.6E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
16 | 88452161 | upstream gene variant | G/T | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
4 | 87136201 | 3 prime UTR variant | G/A | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
14 | 23118346 | intron variant | G/T | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 69874913 | regulatory region variant | T/C | snv | 5.1E-04 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
20 | 32687779 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
8 | 125462114 | upstream gene variant | G/A | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 181464733 | intron variant | C/T | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |