| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 1 | 22143914 | 5 prime UTR variant | C/T | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.120 | 2 | 238022053 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.752 | 0.240 | 1 | 241889740 | 3 prime UTR variant | A/G | snv | 0.72 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.662 | 0.320 | 12 | 25207290 | 3 prime UTR variant | A/C | snv | 6.2E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.120 | 7 | 27185939 | non coding transcript exon variant | A/T | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.120 | 18 | 27347470 | intron variant | G/A | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 2 | 28097166 | intron variant | T/C | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 6 | 28518321 | intron variant | A/C | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.120 | 22 | 28696732 | intron variant | C/T | snv | 7.0E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 7 | 2907529 | intron variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.120 | 2 | 30754766 | intron variant | C/A | snv | 0.39 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 |
|
0.020 | 0.500 | 2 | 2003 | 2015 | |||||||
|
0.925 | 0.120 | 22 | 32413845 | upstream gene variant | T/C | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 14 | 32625843 | intron variant | A/G | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 14 | 32706736 | intron variant | T/G | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.763 | 0.200 | 16 | 331927 | intron variant | C/A | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.200 | 16 | 342461 | intron variant | C/T | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.742 | 0.360 | 9 | 34649445 | missense variant | A/G | snv | 9.2E-02 | 7.4E-02 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.925 | 0.120 | 7 | 35307237 | intergenic variant | G/A | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.120 | 6 | 3580855 | downstream gene variant | T/A | snv | 8.2E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 10 | 36880367 | regulatory region variant | G/T | snv | 0.90 |
|
0.710 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.120 | 1 | 37616450 | intron variant | G/A | snv | 0.24 | 0.21 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.807 | 0.120 | 17 | 37733029 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.807 | 0.160 | 17 | 37736525 | intron variant | C/G;T | snv |
|
0.710 | 1.000 | 2 | 2013 | 2015 |