| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 9 | 15289580 | intron variant | C/T | snv | 0.87 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 8 | 9327636 | intron variant | T/C | snv | 0.87 |
|
0.800 | 1.000 | 1 | 2013 | 2019 | |||||||||
|
18 | 49632720 | intergenic variant | A/G | snv | 0.86 |
|
0.800 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
18 | 49656294 | TF binding site variant | A/G | snv | 0.83 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
15 | 58442806 | intron variant | A/G | snv | 0.83 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 |
|
0.800 | 1.000 | 6 | 2009 | 2019 | ||||||||
|
0.827 | 0.200 | 19 | 54293995 | downstream gene variant | T/C | snv | 0.82 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
15 | 58450219 | intron variant | G/A | snv | 0.81 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||||
|
16 | 56983850 | downstream gene variant | C/G | snv | 0.80 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||||
|
16 | 56961126 | upstream gene variant | T/C | snv | 0.80 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.851 | 0.120 | 15 | 58435126 | non coding transcript exon variant | A/G | snv | 0.80 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||
|
16 | 56963457 | intron variant | A/T | snv | 0.79 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.851 | 0.240 | 2 | 21002409 | missense variant | C/T | snv | 0.70 | 0.78 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | |||||||
|
16 | 56974315 | intron variant | G/A | snv | 0.78 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
8 | 125481504 | intron variant | A/G | snv | 0.76 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.080 | 2 | 21003688 | intron variant | A/G | snv | 0.76 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
1.000 | 16 | 56960280 | upstream gene variant | C/T | snv | 0.76 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
16 | 56966037 | intron variant | A/G | snv | 0.76 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.040 | 16 | 56968820 | intron variant | T/G | snv | 0.75 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||
|
0.752 | 0.240 | 1 | 109275908 | downstream gene variant | C/T | snv | 0.74 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
0.851 | 0.120 | 1 | 109275684 | 3 prime UTR variant | G/T | snv | 0.74 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||
|
18 | 49643445 | intergenic variant | A/G;T | snv | 0.74 |
|
0.700 | 1.000 | 2 | 2012 | 2012 | ||||||||||
|
15 | 58434545 | intron variant | G/C | snv | 0.73 |
|
0.800 | 1.000 | 1 | 2010 | 2019 | ||||||||||
|
11 | 116714817 | regulatory region variant | A/G | snv | 0.73 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
15 | 58401661 | intron variant | C/T | snv | 0.73 |
|
0.700 | 1.000 | 1 | 2011 | 2011 |