| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 8 | 18084767 | missense variant | C/G | snv | 1.3E-03 | 1.5E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 15 | 92924407 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 15 | 93014832 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 15 | 93009265 | missense variant | C/T | snv | 2.0E-05 | 6.3E-05 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 7 | 147120974 | splice region variant | C/A;T | snv | 8.0E-06; 2.7E-04 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 7 | 148147587 | missense variant | G/A | snv | 4.7E-04 | 4.7E-04 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.040 | 8 | 67506804 | missense variant | G/C | snv | 1.5E-03 | 1.2E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.827 | 0.080 | 8 | 67483807 | stop gained | C/A;T | snv | 4.0E-06; 2.0E-03 | 2.5E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.851 | 0.200 | 21 | 43774297 | stop gained | G/A | snv | 4.0E-05 | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 22 | 31754865 | 5 prime UTR variant | G/C | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 22 | 31838822 | protein altering variant | -/AGA | ins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 22 | 31797646 | missense variant | G/A;T | snv | 2.2E-03; 1.6E-05 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 22 | 31765049 | missense variant | G/A;T | snv | 1.6E-05 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 22 | 31870703 | frameshift variant | A/- | del |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 6 | 145686284 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 5 | 162104026 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.080 | 5 | 162149153 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 5 | 162101232 | splice region variant | T/G | snv | 3.6E-05 | 4.9E-05 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 9 | 137163819 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 16 | 9938274 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.040 | 16 | 10180176 | missense variant | G/C | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 16 | 9764834 | missense variant | T/A | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.040 | 16 | 9822337 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 16 | 9840657 | inframe deletion | AAG/- | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.040 | 16 | 9849778 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 |