| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 62596235 | intron variant | C/T | snv | 0.39 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 111119568 | intron variant | G/A | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
2 | 181678775 | missense variant | G/C | snv | 5.2E-05 | 4.2E-05 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
9 | 133440318 | intron variant | A/G | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
4 | 112432155 | missense variant | G/A;T | snv | 8.5E-03; 2.4E-05 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
4 | 112432293 | missense variant | A/G | snv | 8.5E-03 | 5.5E-03 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
11 | 5225612 | missense variant | G/A;C;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 1998 | 1998 | ||||||||||
|
1 | 206112629 | intron variant | G/A;T | snv |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||||||
|
13 | 25530064 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||||
|
9 | 133445896 | intron variant | G/A | snv | 0.66 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
3 | 38727881 | intron variant | T/C | snv | 6.4E-03 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 201389275 | missense variant | C/T | snv | 1.1E-04 | 3.5E-05 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
5 | 1295957 | upstream gene variant | A/G | snv | 0.88 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
3 | 187500548 | intergenic variant | A/G | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.917 | 12 | 2005 | 2017 | |||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.030 | 0.667 | 3 | 2012 | 2017 | |||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.030 | 0.667 | 3 | 2014 | 2017 | ||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.100 | 0.933 | 15 | 2006 | 2018 | ||||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.100 | 0.800 | 15 | 2000 | 2019 | |||||||
|
0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.030 | 1.000 | 3 | 2004 | 2018 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.020 | 0.500 | 2 | 2014 | 2017 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.020 | 0.500 | 2 | 2014 | 2017 | |||||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 |
|
0.010 | 1.000 | 1 | 2016 | 2016 |