| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.120 | 12 | 122479003 | intron variant | C/T | snv | 5.9E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.120 | 11 | 123009573 | intergenic variant | G/A | snv | 3.4E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 4 | 80261400 | intergenic variant | T/C | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
5 | 40494576 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
8 | 127916000 | intron variant | C/T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
14 | 64236875 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
0.851 | 0.120 | 12 | 89656726 | intron variant | A/G | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
12 | 12893277 | intron variant | C/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
21 | 36461960 | intron variant | T/C | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
14 | 21074607 | missense variant | A/G | snv | 0.16 | 0.13 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
2 | 46128709 | intron variant | C/A | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.851 | 0.120 | 4 | 102363708 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
6 | 135116248 | regulatory region variant | T/C | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 135085040 | intron variant | T/G | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
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 |