| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 54631543 | intron variant | G/A | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.040 | 4 | 144564586 | intron variant | C/T | snv | 0.31 |
|
0.800 | 1.000 | 1 | 2012 | 2015 | ||||||||
|
0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | |||||||
|
0.827 | 0.120 | 4 | 88948181 | intron variant | T/C | snv | 0.49 |
|
0.800 | 1.000 | 1 | 2012 | 2015 | ||||||||
|
1 | 17265184 | intron variant | T/C | snv | 3.7E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 150249731 | 3 prime UTR variant | A/C;G | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
8 | 72324575 | intergenic variant | C/T | snv | 5.5E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
16 | 78154599 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
18 | 10078074 | regulatory region variant | G/A | snv | 0.22 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||||
|
12 | 101626668 | intron variant | T/C | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
4 | 105657597 | intron variant | A/G | snv | 6.6E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
8 | 18816221 | intron variant | T/C;G | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 0.080 | 13 | 42212544 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 4 | 105897896 | splice region variant | G/A;T | snv | 0.17 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||
|
4 | 144513536 | intron variant | T/C | snv | 0.68 |
|
0.700 | 1.000 | 2 | 2015 | 2015 | ||||||||||
|
12 | 114763631 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2015 | 2019 | |||||||||||
|
22 | 17967521 | intron variant | A/T | snv | 0.20 |
|
0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||||
|
4 | 144551492 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2015 | 2015 | |||||||||||
|
4 | 144521212 | intron variant | G/A | snv | 0.65 |
|
0.700 | 1.000 | 2 | 2015 | 2019 | ||||||||||
|
1.000 | 0.040 | 4 | 144585304 | intron variant | T/C | snv | 0.32 |
|
0.700 | 1.000 | 2 | 2015 | 2019 | ||||||||
|
1.000 | 0.040 | 4 | 144524627 | intron variant | A/T | snv | 0.31 |
|
0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
0.708 | 0.320 | 14 | 94378610 | missense variant | C/G;T | snv | 2.8E-05; 1.1E-02 |
|
0.700 | 1.000 | 2 | 2015 | 2018 | ||||||||
|
3 | 128212497 | intron variant | G/A | snv | 0.89 |
|
0.700 | 1.000 | 2 | 2015 | 2019 | ||||||||||
|
2 | 136064309 | regulatory region variant | C/- | delins | 0.51 |
|
0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||||
|
4 | 144549452 | intron variant | T/C | snv | 0.66 |
|
0.700 | 1.000 | 2 | 2015 | 2015 |