| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 31170330 | synonymous variant | G/A | snv | 0.18 | 0.22 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
6 | 31636814 | missense variant | C/T | snv | 0.14 | 0.17 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
12 | 67453680 | intron variant | G/A | snv | 0.84 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
4 | 107189709 | intron variant | T/C | snv | 1.9E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
6 | 62460168 | downstream gene variant | A/C | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
16 | 3348899 | TF binding site variant | GGGACT/- | delins | 2.8E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
2 | 178711222 | synonymous variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
6 | 32621223 | regulatory region variant | -/T | delins |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
6 | 32189131 | intron variant | G/A | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
14 | 87737048 | intron variant | C/T | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
6 | 32399738 | intron variant | T/C | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 32399482 | intron variant | T/A;G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 32403039 | missense variant | G/A | snv | 0.14 | 0.12 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
6 | 32634705 | intron variant | T/C | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 31624031 | intron variant | A/G | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 31629923 | intron variant | C/T | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
13 | 22735243 | intergenic variant | C/T | snv | 0.78 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
4 | 129344228 | regulatory region variant | TT/-;T;TTT | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
10 | 82625296 | intron variant | G/A | snv | 0.83 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
20 | 15683126 | intron variant | C/T | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
4 | 136134743 | intron variant | G/C | snv | 9.8E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
3 | 109735523 | intron variant | C/T | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 116037356 | missense variant | G/T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
6 | 31683417 | intron variant | A/C | snv | 5.3E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 32621223 | regulatory region variant | G/T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2013 | 2013 |