| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.800 | 1.000 | 2 | 2010 | 2013 | |||||||
|
16 | 248589 | intron variant | A/G | snv | 3.8E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 139514552 | intron variant | C/T | snv | 0.51 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 109287294 | intron variant | C/T | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.851 | 0.320 | 6 | 135097880 | intron variant | T/C | snv | 0.20 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
16 | 120077 | intron variant | G/C | snv | 2.5E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2016 | ||||||||||
|
8 | 129591389 | intron variant | C/T | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 110852366 | intron variant | T/C | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
8 | 97627834 | upstream gene variant | A/G | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 32581163 | upstream gene variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
19 | 4061546 | intron variant | C/T | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 18526808 | upstream gene variant | C/G | snv | 0.81 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
11 | 19203130 | intron variant | T/A | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 52068035 | upstream gene variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
11 | 4139451 | upstream gene variant | T/C | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
16 | 192899 | intron variant | G/C | snv | 5.8E-02 | 7.0E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1 | 47227548 | non coding transcript exon variant | A/G | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
16 | 176265 | upstream gene variant | G/C | snv | 4.3E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
16 | 146470 | intron variant | A/G | snv | 4.7E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 189568259 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
10 | 45487060 | intron variant | T/C | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 111521757 | intron variant | G/- | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
11 | 67463558 | 3 prime UTR variant | TT/-;T;TTT;TTTT;TTTTTTTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
9 | 98001175 | intron variant | T/-;TT | delins | 0.25 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
14 | 23030112 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |