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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 111153625 | intron variant | T/C | snv | 0.21 |
|
0.700 | 1.000 | 3 | 2011 | 2017 | ||||||||||
|
1.000 | 0.080 | 2 | 181454574 | upstream gene variant | C/T | snv | 0.56 |
|
0.700 | 1.000 | 3 | 2011 | 2018 | ||||||||
|
2 | 181463487 | intron variant | G/A | snv | 0.55 |
|
0.700 | 1.000 | 3 | 2013 | 2017 | ||||||||||
|
0.882 | 0.120 | 3 | 42865620 | missense variant | A/C;T | snv | 0.43; 8.3E-03 |
|
0.700 | 1.000 | 3 | 2013 | 2018 | ||||||||
|
1.000 | 0.040 | 3 | 128578726 | upstream gene variant | G/A;C | snv | 0.31 |
|
0.700 | 1.000 | 3 | 2011 | 2017 | ||||||||
|
9 | 111150273 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2018 | |||||||||||
|
13 | 40428504 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 2 | 2016 | 2018 | |||||||||||
|
8 | 129611859 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2014 | 2017 | |||||||||||
|
1.000 | 0.080 | 3 | 42864624 | missense variant | T/C | snv | 5.1E-02 | 4.7E-02 |
|
0.700 | 1.000 | 2 | 2013 | 2016 | |||||||
|
0.925 | 0.160 | 14 | 23120140 | upstream gene variant | A/C;G | snv |
|
0.700 | 1.000 | 2 | 2016 | 2018 | |||||||||
|
0.763 | 0.360 | 1 | 159204893 | 5 prime UTR variant | T/C | snv | 0.25 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
6 | 31253891 | intergenic variant | C/A;G | snv | 0.55 |
|
0.700 | 1.000 | 2 | 2011 | 2014 | ||||||||||
|
7 | 92779056 | intron variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
1 | 150611627 | intron variant | G/T | snv | 0.16 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
0.851 | 0.040 | 13 | 28029870 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 2 | 2016 | 2017 | |||||||||
|
8 | 129601368 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
14 | 25034593 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
2 | 224888625 | intron variant | A/G | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
16 | 85923808 | upstream gene variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | 0.080 | 7 | 50273756 | downstream gene variant | G/A | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
17 | 74706839 | intron variant | G/A | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 53824615 | upstream gene variant | T/G | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 33080829 | missense variant | G/C | snv | 0.14 | 0.15 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1 | 185422035 | regulatory region variant | G/A | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 181459460 | intron variant | TT/-;T;TTT | delins | 0.56 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |