| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 100747483 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
7 | 100767944 | synonymous variant | C/T | snv | 0.23 | 0.20 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
6 | 109292049 | intron variant | A/C;T | snv |
|
0.800 | 1.000 | 1 | 2009 | 2017 | |||||||||||
|
6 | 109296339 | intron variant | T/A | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
6 | 109305762 | intron variant | G/A | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
6 | 109311596 | intron variant | A/G | snv | 0.40 |
|
0.800 | 1.000 | 1 | 2009 | 2017 | ||||||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.800 | 1.000 | 1 | 2009 | 2019 | ||||||||
|
0.851 | 0.200 | 12 | 111466567 | intron variant | T/A | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.763 | 0.320 | 12 | 111472415 | intron variant | A/G | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.672 | 0.600 | 12 | 111569952 | intron variant | C/T | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.827 | 0.240 | 12 | 112049014 | intron variant | A/G | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 12 | 112153882 | downstream gene variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.851 | 0.320 | 12 | 112172910 | intron variant | G/A;C | snv | 0.30; 4.1E-06 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.827 | 0.200 | 12 | 112433568 | intron variant | A/G | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 12 | 112468611 | intron variant | A/G | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
19 | 12663394 | missense variant | G/C | snv | 0.25 | 0.31 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
19 | 12820875 | intron variant | A/T | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
19 | 12831936 | intron variant | A/G | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
19 | 12837124 | intron variant | T/C | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
19 | 12847036 | intron variant | A/G | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
19 | 12847546 | intron variant | T/C | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
19 | 12847883 | synonymous variant | T/C | snv | 0.36 | 0.40 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
19 | 12852329 | splice region variant | T/C | snv | 0.34 | 0.35 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
19 | 12863822 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
19 | 12864785 | intron variant | G/A;T | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2009 | 2009 |