| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.120 | 2 | 60490908 | intron variant | T/C;G | snv |
|
0.710 | 1.000 | 3 | 2011 | 2019 | |||||||||
|
0.925 | 0.080 | 2 | 60492835 | intron variant | C/A | snv | 0.80 |
|
0.700 | 1.000 | 3 | 2011 | 2014 | ||||||||
|
0.752 | 0.280 | 2 | 60493111 | intron variant | C/T | snv | 0.65 |
|
0.710 | 1.000 | 2 | 2011 | 2016 | ||||||||
|
0.790 | 0.400 | 2 | 60493816 | intron variant | A/C;G | snv |
|
0.710 | 1.000 | 2 | 2011 | 2016 | |||||||||
|
0.547 | 0.720 | 11 | 46739084 | missense variant | G/A;C | snv |
|
0.020 | 1.000 | 2 | 2006 | 2013 | |||||||||
|
1.000 | 0.080 | 2 | 60493622 | intron variant | G/A | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 2 | 60486100 | intron variant | A/G | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 2 | 60493454 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.752 | 0.360 | 6 | 29830972 | 3 prime UTR variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.080 | 9 | 130502523 | downstream gene variant | C/T | snv | 0.52 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.120 | 12 | 63153459 | intron variant | T/C | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 9 | 130483269 | intron variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.280 | 1 | 11273836 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 6 | 71067268 | intergenic variant | G/A | snv | 4.4E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 5 | 113387870 | intron variant | A/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 14 | 56732364 | upstream gene variant | C/T | snv | 8.6E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 9 | 109419337 | intron variant | T/C | snv | 3.9E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 2 | 105998818 | intergenic variant | T/C | snv | 7.1E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 2 | 60491939 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | 2 | 60496951 | intron variant | T/C | snv | 0.81 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 2 | 60496952 | intron variant | G/T | snv | 0.80 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.807 | 0.280 | 7 | 80613604 | intron variant | A/G | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.708 | 0.320 | 22 | 35380679 | intron variant | A/T | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |