| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||
|
0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
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 | |||||||||
|
0.724 | 0.240 | 1 | 159205564 | missense variant | G/A | snv | 0.51 | 0.66 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||
|
1 | 1014228 | missense variant | G/A;C | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.776 | 0.400 | 1 | 207580276 | missense variant | A/G | snv | 0.25 | 0.21 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.160 | 1 | 32862564 | 3 prime UTR variant | G/A | snv | 0.56 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.763 | 0.240 | 1 | 207616743 | missense variant | C/A;G | snv | 8.0E-06; 0.24 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.653 | 0.560 | 1 | 203186754 | upstream gene variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.120 | 1 | 204156683 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.701 | 0.440 | 2 | 241850169 | 3 prime UTR variant | C/T | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.280 | 2 | 26195184 | missense variant | C/G | snv | 1.2E-03 | 1.0E-03 |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||
|
0.677 | 0.480 | 2 | 241851281 | missense variant | G/A | snv | 9.2E-02 | 4.3E-02 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||
|
0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.776 | 0.200 | 2 | 112013193 | intron variant | A/G | snv | 0.58 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
2 | 112923864 | downstream gene variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.641 | 0.480 | 3 | 52227015 | intron variant | A/G | snv | 0.38 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.742 | 0.320 | 4 | 87310240 | splice donor variant | -/A | delins | 0.22 |
|
0.020 | 0.500 | 2 | 2019 | 2020 | ||||||||
|
0.882 | 0.080 | 4 | 87308948 | intron variant | T/A;C;G | snv |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||||
|
0.776 | 0.160 | 4 | 141733394 | 3 prime UTR variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 4 | 153684312 | 5 prime UTR variant | CGGCTGCTCGGCGTTCTCTCAGG/- | delins | 0.17 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |