| 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 | 199041592 | non coding transcript exon variant | C/T | snv | 0.76 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | ||||||||||
|
1 | 247876149 | missense variant | C/T | snv | 0.31 | 0.26 |
|
0.700 | 1.000 | 3 | 2012 | 2019 | |||||||||
|
1 | 3774964 | intron variant | A/G | snv | 0.31 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
1 | 3080038 | intron variant | T/C | snv | 0.73 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
1.000 | 0.120 | 1 | 203312047 | downstream gene variant | G/C | snv | 0.40 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
1 | 214007378 | intron variant | A/G | snv | 0.35 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
0.925 | 0.120 | 1 | 155208991 | missense variant | T/A | snv | 0.36 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
1 | 213793544 | intron variant | T/C | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.882 | 0.080 | 1 | 15524118 | missense variant | G/A | snv | 0.50 | 0.59 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 212903562 | downstream gene variant | G/T | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 229648978 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 3402205 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 234599210 | regulatory region variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 231067843 | intergenic variant | C/T | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 47227548 | non coding transcript exon variant | A/G | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 28217607 | intron variant | G/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 25820023 | 5 prime UTR variant | G/C | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 47564678 | regulatory region variant | G/A | snv | 6.6E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 3188408 | intron variant | G/A | snv | 3.2E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 248877988 | intergenic variant | G/T | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 160101153 | upstream gene variant | C/T | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 147818675 | intergenic variant | G/A | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 78979853 | intron variant | C/T | snv | 7.7E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 1 | 93350843 | intron variant | A/G | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1 | 161708632 | intron variant | T/C | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |