| 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 | 0.200 | 21 | 35343463 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
0.724 | 0.200 | 2 | 191108308 | intron variant | G/A | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.200 | 10 | 8073399 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.200 | 9 | 133266456 | intron variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.827 | 0.200 | 12 | 57099944 | intron variant | T/G | snv | 7.8E-02 | 7.9E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.200 | 19 | 44905910 | missense variant | C/G;T | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.200 | 12 | 56055651 | regulatory region variant | G/A | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.200 | 6 | 32623176 | TF binding site variant | T/C | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.160 | 11 | 61803876 | 5 prime UTR variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
0.882 | 0.160 | 12 | 111395984 | intron variant | G/A | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.160 | 20 | 44413724 | missense variant | C/T | snv | 3.1E-02 | 2.5E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.160 | 14 | 23120140 | upstream gene variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.160 | 5 | 111099792 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.925 | 0.160 | 6 | 32619436 | regulatory region variant | T/C | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.160 | 5 | 1313127 | upstream gene variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.160 | 19 | 51224706 | upstream gene variant | C/A | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.160 | 11 | 76537586 | intron variant | C/T | snv | 3.1E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.160 | 9 | 133279427 | upstream gene variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.160 | 12 | 55991020 | non coding transcript exon variant | G/A | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.160 | 11 | 76582714 | intergenic variant | G/A | snv | 0.44 |
|
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 | 2 | 2016 | 2019 | ||||||||
|
0.851 | 0.120 | 2 | 241759225 | intron variant | G/A | snv | 0.27 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
1.000 | 0.120 | 6 | 90246690 | intron variant | A/G | snv | 0.26 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.882 | 0.120 | 5 | 151081488 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
0.925 | 0.120 | 11 | 65662465 | 5 prime UTR variant | T/C | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |