| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 68293014 | intron variant | G/A | snv | 0.79 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
4 | 76476862 | intron variant | A/G | snv | 0.43 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 73673773 | intron variant | T/C;G | snv | 0.21; 3.9E-05 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
15 | 45426989 | upstream gene variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
4 | 76489165 | intron variant | C/A | snv | 0.33 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.672 | 0.600 | 12 | 111569952 | intron variant | C/T | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1 | 102260843 | intron variant | T/C | snv | 7.3E-02 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
1.000 | 0.080 | 20 | 46659814 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.080 | 8 | 23893638 | regulatory region variant | C/T | snv | 0.37 |
|
0.700 | 1.000 | 2 | 2016 | 2016 | ||||||||
|
0.827 | 0.200 | 16 | 20356368 | upstream gene variant | G/T | snv | 0.14 |
|
0.800 | 1.000 | 2 | 2013 | 2016 | ||||||||
|
1.000 | 0.080 | 2 | 73641201 | missense variant | A/G | snv | 0.21 | 0.31 |
|
0.800 | 1.000 | 2 | 2013 | 2016 | |||||||
|
0.925 | 0.080 | 4 | 76447694 | intron variant | G/A | snv | 0.34 |
|
0.800 | 1.000 | 2 | 2013 | 2016 | ||||||||
|
2 | 216818056 | intron variant | C/A | snv | 0.56 |
|
0.700 | 1.000 | 2 | 2016 | 2016 | ||||||||||
|
6 | 160254732 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 2 | 2016 | 2016 | |||||||||||
|
1.000 | 0.080 | 5 | 177390635 | intron variant | A/G | snv | 0.29 |
|
0.800 | 1.000 | 2 | 2013 | 2016 | ||||||||
|
0.925 | 0.080 | 17 | 39387196 | intron variant | T/A;G | snv |
|
0.800 | 1.000 | 2 | 2012 | 2016 | |||||||||
|
7 | 1245559 | regulatory region variant | A/T | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
15 | 53659238 | intron variant | A/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.080 | 10 | 1019770 | stop gained | C/T | snv | 5.0E-02 | 6.0E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
12 | 3258927 | intron variant | G/A | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
3 | 186104564 | intron variant | T/G | snv | 9.2E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.080 | 12 | 240132 | intron variant | C/T | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 10 | 1110225 | intron variant | T/C | snv | 0.89 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.120 | 12 | 57415673 | intron variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
12 | 75889574 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |