| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 100152221 | intergenic variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
2 | 101025798 | intron variant | A/G | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
15 | 101365328 | intron variant | T/C | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
4 | 101786634 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | 0.080 | 3 | 102036894 | TF binding site variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
10 | 102168617 | downstream gene variant | G/A | snv | 4.1E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.851 | 0.120 | 4 | 102363708 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
12 | 103143488 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
4 | 103253686 | upstream gene variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
14 | 103824476 | intron variant | A/G | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.925 | 0.080 | 5 | 10467590 | intron variant | G/A | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 9 | 104891145 | intron variant | G/A | snv | 9.1E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.120 | 9 | 104899461 | intron variant | A/C | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.807 | 0.120 | 9 | 104902020 | intron variant | C/T | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
9 | 104903458 | intron variant | G/A | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 9 | 104903697 | 5 prime UTR variant | C/A;G;T | snv | 5.4E-06; 0.14 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
9 | 104903754 | 5 prime UTR variant | -/C | delins | 0.10 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
8 | 10634174 | intron variant | C/G | snv | 0.74 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 106780868 | intron variant | A/C | snv | 0.23 |
|
0.700 | 1.000 | 2 | 2017 | 2017 | ||||||||||
|
12 | 107647896 | intron variant | A/G | snv | 6.7E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 10785654 | intron variant | C/G;T | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
8 | 10813750 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
8 | 10826419 | intron variant | G/C;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2013 | |||||||||||
|
2 | 108314649 | upstream gene variant | T/A | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 109223867 | missense variant | A/G | snv | 7.6E-04 | 8.4E-04 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |