| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.360 | 11 | 61008737 | missense variant | C/G;T | snv | 4.2E-06; 0.31 |
|
0.800 | 1.000 | 1 | 2012 | 2015 | ||||||||
|
1.000 | 0.040 | 12 | 40398498 | intron variant | G/A | snv | 3.1E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
12 | 12504579 | intron variant | A/G | snv | 0.22 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.040 | 19 | 54871595 | upstream gene variant | G/A | snv | 0.35 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.040 | 5 | 150898347 | intron variant | A/G | snv | 8.8E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.925 | 0.040 | 5 | 40410482 | upstream gene variant | T/C;G | snv |
|
0.800 | 1.000 | 1 | 2012 | 2017 | |||||||||
|
1.000 | 0.040 | 19 | 10402235 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2012 | 2017 | |||||||||
|
0.925 | 0.040 | 1 | 1312114 | synonymous variant | T/A;C;G | snv | 0.56 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
6 | 143577757 | intron variant | A/G | snv | 4.8E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2015 | ||||||||||
|
0.925 | 0.080 | 10 | 79272775 | intron variant | A/G | snv | 0.36 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 1 | 22375738 | intergenic variant | T/C | snv | 0.21 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.925 | 0.120 | 5 | 177367190 | intron variant | G/A | snv | 0.34 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 10 | 6039267 | intron variant | C/A | snv | 0.13 |
|
0.800 | 1.000 | 1 | 2012 | 2015 | ||||||||
|
1.000 | 0.040 | 17 | 59886176 | missense variant | A/G | snv | 0.45 | 0.46 |
|
0.800 | 1.000 | 1 | 2012 | 2015 | |||||||
|
0.807 | 0.200 | 17 | 42375526 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2017 | |||||||||
|
0.851 | 0.160 | 17 | 39756124 | downstream gene variant | C/T | snv | 0.37 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
1.000 | 0.040 | 5 | 96917099 | intron variant | G/A | snv | 0.38 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.882 | 0.200 | 7 | 50264865 | upstream gene variant | C/T | snv | 0.67 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.851 | 0.160 | 2 | 191066738 | intron variant | A/C | snv | 0.45 |
|
0.800 | 1.000 | 1 | 2012 | 2015 | ||||||||
|
0.851 | 0.280 | 20 | 46113425 | upstream gene variant | C/A | snv | 0.80 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.827 | 0.120 | 13 | 26957130 | regulatory region variant | T/C | snv | 0.16 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.882 | 0.120 | 6 | 14719265 | intron variant | G/A | snv | 0.74 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.763 | 0.240 | 15 | 67150258 | intron variant | C/T | snv | 0.17 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.925 | 0.080 | 7 | 100717894 | upstream gene variant | A/G | snv | 0.84 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.040 | 19 | 33240645 | regulatory region variant | G/A | snv | 0.22 |
|
0.800 | 1.000 | 1 | 2012 | 2017 |