| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 6 | 32660651 | non coding transcript exon variant | C/A | snv | 9.6E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.790 | 0.400 | 6 | 32601914 | intergenic variant | G/A | snv | 0.27 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
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 | |||||||||
|
0.882 | 0.240 | 6 | 32405455 | splice region variant | G/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.040 | 6 | 32405535 | non coding transcript exon variant | C/T | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.280 | 6 | 31635993 | synonymous variant | A/G | 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 | ||||||||||
|
1.000 | 0.040 | 1 | 233984064 | intron variant | T/A;C | snv |
|
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 | ||||||||||
|
0.925 | 0.120 | 6 | 32187221 | non coding transcript exon variant | C/T | snv | 0.18 | 0.21 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.120 | 6 | 32186508 | non coding transcript exon variant | A/G | snv | 0.21 | 0.27 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.763 | 0.480 | 6 | 32142202 | intergenic variant | A/G | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
14 | 87737048 | intron variant | C/T | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 0.040 | 6 | 32445373 | downstream gene variant | G/A | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 6 | 32445317 | downstream gene variant | A/G | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.160 | 6 | 32445682 | downstream gene variant | G/A | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.200 | 6 | 32444069 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.882 | 0.240 | 6 | 32444056 | intron variant | C/A;T | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.240 | 6 | 32443746 | intron variant | T/A;C | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2013 | 2013 |