| 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 |
|
0.900 | 0.857 | 1 | 2005 | 2019 | |||||||
|
1.000 | 0.120 | 12 | 125861206 | intron variant | T/G | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 12 | 125862468 | intron variant | T/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 8 | 133075205 | intron variant | A/G | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.120 | 8 | 133133268 | intron variant | G/A | snv | 0.49 |
|
0.810 | 1.000 | 1 | 2013 | 2019 | ||||||||
|
1.000 | 0.120 | 8 | 133173424 | intergenic variant | T/G | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.120 | 1 | 157671893 | downstream gene variant | C/T | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 1 | 157674077 | downstream gene variant | A/G | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.320 | 1 | 157698600 | missense variant | T/C;G | snv | 0.45 | 0.51 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.827 | 0.320 | 1 | 157699488 | intron variant | C/A;G;T | snv |
|
0.810 | 1.000 | 1 | 2011 | 2013 | |||||||||
|
1.000 | 0.120 | 1 | 157784569 | intergenic variant | A/G | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.160 | 1 | 157800451 | intron variant | C/T | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 1 | 157811102 | intron variant | A/G | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 1 | 157828210 | downstream gene variant | G/A | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 1 | 160471451 | TF binding site variant | G/C | snv | 0.96 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 1 | 160495121 | intron variant | C/A;G | snv | 0.96 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.200 | 6 | 166960220 | upstream gene variant | C/T | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.200 | 6 | 166969587 | downstream gene variant | G/A;T | snv |
|
0.850 | 1.000 | 1 | 2011 | 2018 | |||||||||
|
1.000 | 0.120 | 6 | 166986024 | intron variant | A/G | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 6 | 166990385 | intron variant | C/A | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 6 | 167004623 | intron variant | A/C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.120 | 6 | 167017659 | intron variant | C/T | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.752 | 0.320 | 6 | 167024500 | intron variant | C/T | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 6 | 167087074 | intron variant | C/T | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2011 | 2011 |