| 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 | 118370989 | regulatory region variant | G/C | snv | 3.6E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 178975161 | missense variant | G/A | snv | 3.0E-02 | 2.6E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | |||||||||
|
12 | 27802363 | 3 prime UTR variant | C/T | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
9 | 125516460 | intron variant | A/G | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 66525663 | intergenic variant | T/C | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 20319268 | intergenic variant | T/C | snv | 0.18 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
12 | 37536300 | intergenic variant | A/G | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.040 | 10 | 103891899 | intron variant | G/T | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
18 | 32423359 | intron variant | G/A | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
18 | 28186254 | intergenic variant | A/C | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 121427396 | intergenic variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
11 | 12237634 | intron variant | C/- | delins | 6.6E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 217549548 | intron variant | -/T | ins | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
7 | 127329992 | intergenic variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1.000 | 0.040 | 6 | 120626545 | intron variant | C/T | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1 | 156486737 | intron variant | T/G | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
18 | 22549561 | intergenic variant | A/C | snv | 4.1E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
3 | 122371255 | intron variant | G/A | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.040 | 6 | 33767694 | downstream gene variant | G/C | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
11 | 62675614 | upstream gene variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
0.925 | 0.120 | 4 | 23949395 | regulatory region variant | C/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
11 | 44958832 | intergenic variant | A/G | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 81825597 | intergenic variant | C/T | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | |||||||
|
7 | 100889133 | missense variant | G/C | snv | 0.15 | 0.13 |
|
0.800 | 1.000 | 1 | 2010 | 2010 |