| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.240 | 19 | 45369135 | synonymous variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.040 | 19 | 19554834 | regulatory region variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 |
|
0.030 | 0.667 | 3 | 2017 | 2018 | ||||||||
|
0.708 | 0.280 | 6 | 133893387 | 3 prime UTR variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.160 | 21 | 45531871 | missense variant | G/A;C | snv |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.040 | 14 | 20442249 | downstream gene variant | C/T | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.672 | 0.480 | 14 | 20454990 | non coding transcript exon variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.641 | 0.480 | 11 | 1995678 | non coding transcript exon variant | G/A | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.827 | 0.080 | 14 | 20448090 | non coding transcript exon variant | T/A;C | snv | 4.0E-06; 0.26 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.827 | 0.160 | 2 | 215325297 | missense variant | C/G | snv | 0.33 | 0.25 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | |||||||
|
0.732 | 0.440 | 12 | 102399855 | 3 prime UTR variant | A/G | snv | 2.1E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.653 | 0.600 | 6 | 31576786 | synonymous variant | G/A | snv | 1.6E-05 | 1.4E-05 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | |||||||
|
0.689 | 0.400 | 7 | 22728790 | missense variant | A/G;T | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 2 | 127283339 | intron variant | T/C | snv | 0.37 |
|
0.020 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.851 | 0.080 | 4 | 87661983 | missense variant | A/G;T | snv | 4.0E-06; 0.29 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.120 | 16 | 82148499 | 3 prime UTR variant | T/C | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.653 | 0.600 | 15 | 81305928 | missense variant | T/G | snv | 9.6E-02 | 0.12 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.120 | 2 | 54168122 | intron variant | G/A | snv | 7.3E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.160 | 3 | 50341515 | intron variant | A/G | snv | 0.22 | 0.20 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.040 | 3 | 50334001 | intron variant | C/A | snv | 0.39 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.716 | 0.400 | 15 | 81285798 | missense variant | C/T | snv | 0.17 | 0.11 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 |