| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.160 | 11 | 112153104 | non coding transcript exon variant | C/G | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 11 | 112164936 | intron variant | A/T | snv | 3.7E-03 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.160 | 3 | 112532749 | missense variant | C/T | snv | 8.3E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.827 | 0.160 | 3 | 112548576 | missense variant | T/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.763 | 0.160 | 10 | 112738717 | intron variant | G/A | snv | 0.20 |
|
0.710 | 1.000 | 1 | 2015 | 2019 | ||||||||
|
0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.677 | 0.440 | 2 | 112838252 | upstream gene variant | C/G | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 2 | 112840678 | non coding transcript exon variant | C/T | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 1 | 112913924 | missense variant | A/T | snv | 0.59 | 0.66 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.080 | 12 | 113057841 | 5 prime UTR variant | G/A | snv | 0.65 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 9 | 113224129 | intron variant | T/G | snv | 8.7E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 9 | 113240184 | intron variant | A/G | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 9 | 113241753 | intron variant | C/A;T | snv |
|
0.020 | 1.000 | 2 | 2012 | 2016 | |||||||||
|
0.807 | 0.280 | 3 | 11340656 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 4 | 113625548 | intron variant | A/G | snv | 0.18 |
|
0.710 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.160 | 10 | 113678445 | upstream gene variant | C/A | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.807 | 0.160 | 10 | 113729393 | missense variant | C/G | snv | 0.26 | 0.23 |
|
0.020 | 1.000 | 2 | 2009 | 2012 | |||||||
|
0.807 | 0.160 | 10 | 113729830 | 3 prime UTR variant | T/C | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 6 | 113961317 | intron variant | G/A | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.080 | 1 | 1163962 | upstream gene variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.120 | 7 | 116542000 | intron variant | C/T | snv | 0.78 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 7 | 116699588 | missense variant | G/A;T | snv | 3.7E-03 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.790 | 0.120 | 7 | 116700208 | missense variant | A/G | snv | 2.7E-02 | 1.8E-02 |
|
0.010 | 1.000 | 1 | 2005 | 2005 |