| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 16102887 | 3 prime UTR variant | -/A | delins | 4.6E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 29640407 | upstream gene variant | -/A;AT | ins | 0.60 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
20 | 59023277 | intron variant | -/AA | ins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
16 | 88730362 | intron variant | -/AGGCGG | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
17 | 50184820 | 3 prime UTR variant | -/CTTG | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
9 | 38198231 | intergenic variant | -/G | delins | 0.48 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 112086916 | intron variant | -/GAG;GGAG | delins | 0.95 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.040 | 12 | 123218875 | intron variant | -/TGT;TGTTGT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
3 | 196784238 | intron variant | A/- | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
9 | 329344 | intron variant | A/- | del | 0.22 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
5 | 142130697 | intron variant | A/-;AA;AAA;AAAA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
9 | 96430637 | intergenic variant | A/C | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
14 | 105291880 | intron variant | A/C | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 135083984 | intron variant | A/C | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 55186797 | intron variant | A/C | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 119212608 | intron variant | A/C | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
7 | 123771169 | intergenic variant | A/C | snv | 6.5E-02 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
14 | 74761944 | upstream gene variant | A/C | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 33584930 | intron variant | A/C | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
9 | 4891797 | intergenic variant | A/C | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 49277876 | upstream gene variant | A/C | snv | 6.1E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
21 | 39369920 | downstream gene variant | A/C | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 54342686 | intron variant | A/C;G | snv | 0.68 |
|
0.800 | 1.000 | 2 | 2013 | 2019 | ||||||||||
|
10 | 27068541 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
16 | 480967 | intron variant | A/C;G | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |