| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
0.100 | 1.000 | 28 | 2011 | 2020 | |||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.100 | 0.895 | 19 | 1998 | 2019 | |||||||
|
0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 |
|
0.100 | 0.818 | 11 | 1999 | 2011 | |||||||
|
0.630 | 0.440 | 19 | 19268740 | missense variant | C/T | snv | 6.5E-02 | 5.8E-02 |
|
0.060 | 1.000 | 6 | 2015 | 2020 | |||||||
|
0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 |
|
0.060 | 1.000 | 6 | 2011 | 2017 | ||||||||
|
0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 |
|
0.050 | 1.000 | 5 | 2011 | 2017 | ||||||||
|
0.708 | 0.320 | 14 | 94378610 | missense variant | C/G;T | snv | 2.8E-05; 1.1E-02 |
|
0.020 | 1.000 | 2 | 2019 | 2020 | ||||||||
|
0.882 | 0.120 | 17 | 10692932 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 |
|
0.020 | 0.500 | 2 | 2009 | 2013 | |||||||
|
0.689 | 0.320 | 19 | 54173068 | missense variant | T/A;C;G | snv |
|
0.020 | 0.500 | 2 | 2018 | 2019 | |||||||||
|
0.742 | 0.320 | 4 | 87310240 | splice donor variant | -/A | delins | 0.22 |
|
0.020 | 0.500 | 2 | 2019 | 2020 | ||||||||
|
0.701 | 0.440 | 2 | 241850169 | 3 prime UTR variant | C/T | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 4 | 87308948 | intron variant | T/A;C;G | snv |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.120 | 17 | 10692805 | missense variant | G/A | snv |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||||
|
0.827 | 0.080 | 7 | 87409385 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.776 | 0.280 | 17 | 42314074 | 3 prime UTR variant | G/A | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.763 | 0.360 | 17 | 42313892 | 3 prime UTR variant | T/C | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||
|
0.776 | 0.160 | 4 | 141733394 | 3 prime UTR variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 4 | 153684312 | 5 prime UTR variant | CGGCTGCTCGGCGTTCTCTCAGG/- | delins | 0.17 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.120 | 1 | 67255414 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.701 | 0.240 | 12 | 52904798 | missense variant | C/A | snv | 4.9E-03 | 5.4E-03 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.925 | 0.080 | 19 | 39244283 | intron variant | A/G | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.724 | 0.240 | 1 | 159205564 | missense variant | G/A | snv | 0.51 | 0.66 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 |