| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
7 | 44969742 | missense variant | A/G | snv | 0.87 | 0.88 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
19 | 1000800 | synonymous variant | G/C | snv | 0.71 | 0.68 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
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 | 1 | 2016 | 2016 | |||||||
|
11 | 308314 | missense variant | T/C;G | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
14 | 92652324 | synonymous variant | G/A | snv | 0.32 | 0.25 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
19 | 1049306 | synonymous variant | C/A;G | snv | 0.18; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
9 | 286491 | missense variant | G/A | snv | 0.12 | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 19 | 43648948 | missense variant | A/G | snv | 0.12 | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.851 | 0.160 | 20 | 44413724 | missense variant | C/T | snv | 3.1E-02 | 2.5E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 159205704 | missense variant | C/T | snv | 1.1E-02 | 9.9E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 17 | 58279141 | missense variant | A/G | snv | 1.0E-02 | 9.8E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
9 | 132989126 | synonymous variant | C/T | snv | 4.1E-03 | 4.1E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
11 | 118210555 | missense variant | C/T | snv | 4.0E-03 | 3.5E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.724 | 0.240 | 11 | 5227002 | missense variant | T/A;C;G | snv | 3.5E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
2 | 218135259 | missense variant | G/A | snv | 1.4E-03 | 1.4E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.763 | 0.360 | 1 | 159204893 | 5 prime UTR variant | T/C | snv | 0.25 |
|
0.800 | 1.000 | 6 | 2011 | 2019 | ||||||||
|
7 | 92779056 | intron variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 3 | 2011 | 2018 | ||||||||||
|
17 | 40000459 | downstream gene variant | C/G;T | snv |
|
0.800 | 1.000 | 3 | 2010 | 2014 | |||||||||||
|
1.000 | 0.080 | 17 | 40010626 | upstream gene variant | T/C | snv | 0.36 |
|
0.700 | 1.000 | 3 | 2011 | 2017 | ||||||||
|
2 | 135728087 | downstream gene variant | C/T | snv | 0.97 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
4 | 74105479 | intergenic variant | G/A | snv | 0.57 |
|
0.700 | 1.000 | 2 | 2014 | 2018 | ||||||||||
|
5 | 132341949 | intron variant | A/G | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
14 | 68713254 | intron variant | C/T | snv | 8.8E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |