| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.672 | 0.560 | 4 | 122456825 | upstream gene variant | A/C | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.120 | 3 | 52232366 | intron variant | A/C | snv | 7.5E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 11 | 126290792 | intron variant | A/C;G | snv |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||||
|
0.724 | 0.520 | 7 | 22728408 | intron variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.742 | 0.520 | 1 | 206771966 | intron variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.040 | 0.750 | 4 | 2009 | 2017 | |||||||
|
0.641 | 0.480 | 3 | 52227015 | intron variant | A/G | snv | 0.38 |
|
0.030 | 1.000 | 3 | 2014 | 2018 | ||||||||
|
0.752 | 0.320 | X | 12906707 | start lost | A/G | snv | 0.31 | 0.30 |
|
0.030 | 1.000 | 3 | 2011 | 2019 | |||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.020 | 1.000 | 2 | 2011 | 2018 | ||||||||
|
0.807 | 0.120 | 19 | 35281996 | intron variant | A/G | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 7 | 80629494 | intron variant | A/G | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.200 | 12 | 8533837 | 3 prime UTR variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 12 | 8535216 | intron variant | A/G | snv | 0.58 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 2 | 230177560 | missense variant | A/G | snv | 0.42 | 0.40 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 20 | 56248494 | upstream gene variant | A/G | snv | 8.0E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 2 | 118967884 | intron variant | A/G | snv | 1.0E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.827 | 0.200 | 12 | 96015423 | intron variant | A/G | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 17 | 35879999 | intron variant | A/G | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 4 | 74382717 | synonymous variant | A/G | snv | 0.79 | 0.79 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.677 | 0.480 | 11 | 117993348 | missense variant | A/G | snv | 0.13 | 0.11 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 4 | 38797857 | synonymous variant | A/G | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 3 | 187247480 | intron variant | A/G | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 12 | 47871223 | intron variant | A/G | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2016 | 2016 |