| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
13 | 28656444 | upstream gene variant | A/G | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 111493181 | intron variant | G/A | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
3 | 58414160 | 3 prime UTR variant | C/- | del | 0.25 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 26072764 | intergenic variant | C/T | snv | 3.8E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 3402268 | intron variant | -/C;CC | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
0.925 | 0.040 | 15 | 43735849 | intron variant | C/T | snv | 1.7E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
16 | 67795861 | intron variant | CAAACAAA/-;CAAA;CAAACAAACAAA | delins | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
3 | 56710234 | intergenic variant | AACAAA/-;AACAAAAACAAA;AACAAAAACAAAAACAAA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
7 | 100716851 | upstream gene variant | C/T | snv | 4.6E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
X | 150167578 | intron variant | C/G | snv | 5.0E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
19 | 45257662 | intron variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
7 | 1253374 | intergenic variant | A/T | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 46145505 | intron variant | G/A | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.851 | 0.120 | 7 | 19177581 | regulatory region variant | G/A | snv | 7.9E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
6 | 43973400 | intergenic variant | T/C | snv | 3.3E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.827 | 0.160 | 2 | 27412596 | upstream gene variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1 | 161515469 | intron variant | G/T | snv | 8.5E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.763 | 0.160 | 11 | 61781553 | intron variant | G/A | snv | 0.37 | 0.29 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.742 | 0.240 | 11 | 61803311 | intron variant | T/C | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
10 | 69334748 | intron variant | T/C | snv | 6.4E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
17 | 45733706 | intron variant | A/G | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 59216246 | intergenic variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
2 | 46803224 | intron variant | A/G | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 46125187 | intron variant | C/G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |