| 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 | 41957421 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 4 | 2009 | 2018 | |||||||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.800 | 1.000 | 3 | 2009 | 2012 | |||||||
|
1.000 | 0.080 | 6 | 135097497 | intron variant | C/T | snv | 6.9E-02 |
|
0.800 | 1.000 | 3 | 2009 | 2013 | ||||||||
|
9 | 4856877 | intron variant | G/A | snv | 0.15 |
|
0.800 | 1.000 | 2 | 2009 | 2017 | ||||||||||
|
6 | 41957552 | intron variant | T/A | snv | 0.24 |
|
0.700 | 1.000 | 2 | 2009 | 2016 | ||||||||||
|
4 | 54541595 | intergenic variant | C/G | snv | 0.17 |
|
0.800 | 1.000 | 2 | 2009 | 2010 | ||||||||||
|
22 | 37074184 | intron variant | T/C | snv | 0.61 |
|
0.800 | 1.000 | 2 | 2009 | 2017 | ||||||||||
|
6 | 139518286 | intron variant | C/A;G | snv |
|
0.800 | 1.000 | 2 | 2009 | 2017 | |||||||||||
|
19 | 12821455 | intron variant | G/A | snv | 0.37 |
|
0.800 | 1.000 | 2 | 2009 | 2017 | ||||||||||
|
6 | 109295217 | intron variant | T/C | snv | 0.40 |
|
0.800 | 1.000 | 2 | 2009 | 2017 | ||||||||||
|
0.851 | 0.320 | 6 | 135097880 | intron variant | T/C | snv | 0.20 |
|
0.800 | 1.000 | 2 | 2009 | 2018 | ||||||||
|
6 | 135106679 | upstream gene variant | G/A | snv | 0.20 |
|
0.700 | 1.000 | 2 | 2009 | 2019 | ||||||||||
|
3 | 196073676 | intron variant | C/A;T | snv |
|
0.800 | 1.000 | 2 | 2009 | 2017 | |||||||||||
|
10 | 45529281 | intron variant | A/G | snv | 0.31 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
7 | 50360730 | intron variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
22 | 50533323 | upstream gene variant | A/C;G;T | snv |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
2 | 60381624 | intron variant | T/C | snv | 0.29 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
14 | 65008822 | intron variant | C/A;G | snv |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
0.851 | 0.160 | 22 | 37073551 | missense variant | G/A;C | snv | 0.53; 4.0E-06 |
|
0.800 | 1.000 | 1 | 2009 | 2012 | ||||||||
|
0.925 | 0.080 | 6 | 135105435 | upstream gene variant | A/G | snv | 0.21 |
|
0.800 | 1.000 | 1 | 2009 | 2012 | ||||||||
|
16 | 254804 | intron variant | A/T | snv | 0.55 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
7 | 100616392 | downstream gene variant | A/G | snv | 0.22 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
22 | 32471541 | upstream gene variant | G/A | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
0.701 | 0.400 | 22 | 37066896 | missense variant | A/G;T | snv | 0.57; 4.0E-06 |
|
0.800 | 1.000 | 6 | 2010 | 2019 | ||||||||
|
4 | 54528005 | intergenic variant | C/T | snv | 0.18 |
|
0.800 | 1.000 | 3 | 2010 | 2019 |