| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 56661246 | intron variant | C/T | snv | 0.16 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 31274397 | intron variant | G/A | snv | 0.44 |
|
0.700 | 1.000 | 2 | 2011 | 2017 | ||||||||||
|
4 | 105166665 | intron variant | A/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
8 | 128000328 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
9 | 120922814 | intron variant | T/C | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
7 | 39932526 | intergenic variant | G/A | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 16366444 | intron variant | G/C | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
19 | 16466180 | intron variant | G/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.080 | 19 | 16437564 | intron variant | A/G | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
19 | 13837498 | non coding transcript exon variant | G/A | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 6393666 | upstream gene variant | G/A | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
7 | 13978399 | intron variant | ACACACAC/-;AC;ACAC;ACACAC;ACACACACAC;ACACACACACAC | delins | 0.78 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
16 | 89295870 | intron variant | ATGTG/- | delins | 0.83 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
10 | 24916129 | intron variant | T/C | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 9736166 | upstream gene variant | C/T | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 9757536 | intron variant | C/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
9 | 79683075 | intron variant | A/G | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
17 | 76393809 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
0.807 | 0.120 | 12 | 47814585 | intron variant | T/C | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1 | 150724317 | upstream gene variant | GCTTCTGCA/- | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
0.882 | 0.120 | 17 | 40608272 | TF binding site variant | T/A | snv | 1.1E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
8 | 10815498 | intron variant | T/C | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 160450317 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
6 | 32615369 | regulatory region variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
6 | 31348683 | intron variant | C/T | snv | 9.0E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |