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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 20 | 46095666 | upstream gene variant | A/G | snv | 0.79 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 19 | 16437564 | intron variant | A/G | snv | 0.63 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 19 | 33259408 | intergenic variant | G/A | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 19 | 6668961 | intron variant | C/G;T | snv |
|
0.810 | 1.000 | 1 | 2011 | 2013 | |||||||||
|
1.000 | 0.080 | 19 | 49365794 | missense variant | T/G | snv | 0.29 | 0.26 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 19 | 47158236 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2011 | 2016 | |||||||||
|
1.000 | 0.080 | 19 | 12035555 | splice region variant | T/C | snv | 4.0E-02 | 7.3E-02 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.160 | 19 | 46705224 | intron variant | T/C | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 19 | 1123379 | intron variant | A/C | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 19 | 44642803 | intron variant | T/C | snv | 0.43 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.160 | 19 | 10409388 | intron variant | G/A | snv | 0.31 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 19 | 18193890 | missense variant | A/G;T | snv | 0.24; 4.0E-06 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.742 | 0.440 | 18 | 12809341 | intron variant | A/G | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.763 | 0.480 | 18 | 12779948 | upstream gene variant | G/T | snv | 0.83 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 18 | 31209762 | intergenic variant | T/C | snv | 0.20 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 18 | 58716960 | intron variant | T/A;G | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.689 | 0.520 | 18 | 69864406 | missense variant | T/A;C | snv | 4.0E-06; 0.52 |
|
0.770 | 1.000 | 1 | 2009 | 2018 | ||||||||
|
1.000 | 0.080 | 17 | 59946914 | 3 prime UTR variant | A/G | snv | 0.33 |
|
0.820 | 1.000 | 1 | 2011 | 2017 | ||||||||
|
0.790 | 0.360 | 17 | 39909987 | intron variant | T/C | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.763 | 0.480 | 17 | 42329511 | intron variant | G/A;C;T | snv | 2.8E-05; 0.59; 1.6E-05 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.763 | 0.280 | 17 | 39905943 | missense variant | G/A | snv | 0.40 | 0.35 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.752 | 0.360 | 17 | 39884510 | intergenic variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.160 | 17 | 40614034 | intergenic variant | T/C | snv | 0.69 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.689 | 0.560 | 17 | 42362183 | intron variant | A/G | snv | 0.48 |
|
0.820 | 1.000 | 1 | 2010 | 2012 | ||||||||
|
0.925 | 0.120 | 17 | 47691470 | upstream gene variant | T/C | snv | 0.54 |
|
0.800 | 1.000 | 1 | 2011 | 2011 |