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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.120 | 15 | 72350518 | missense variant | C/G;T | snv | 1.3E-04 |
|
0.830 | 1.000 | 6 | 1988 | 2016 | ||||||||
|
0.925 | 0.120 | 15 | 72353105 | missense variant | C/A;G;T | snv | 4.8E-05 |
|
0.820 | 1.000 | 6 | 1988 | 2016 | ||||||||
|
0.882 | 0.160 | 15 | 72345477 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 |
|
0.810 | 1.000 | 8 | 1988 | 2016 | |||||||
|
0.882 | 0.120 | 15 | 72350551 | missense variant | C/G | snv | 4.0E-06 | 7.0E-06 |
|
0.810 | 1.000 | 1 | 1988 | 2016 | |||||||
|
0.925 | 0.120 | 15 | 72345476 | missense variant | C/T | snv | 5.6E-05 | 3.5E-05 |
|
0.800 | 1.000 | 16 | 1988 | 2016 | |||||||
|
1.000 | 0.120 | 15 | 72345462 | missense variant | G/A | snv | 2.4E-05 | 7.0E-06 |
|
0.800 | 1.000 | 10 | 1984 | 2016 | |||||||
|
0.925 | 0.120 | 15 | 72345461 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 9 | 1988 | 2016 | ||||||||
|
1.000 | 0.120 | 15 | 72353129 | missense variant | C/T | snv | 7.0E-06 |
|
0.800 | 1.000 | 8 | 1988 | 2016 | ||||||||
|
1.000 | 0.120 | 15 | 72345528 | stop gained | C/A;T | snv | 8.0E-06 |
|
0.800 | 1.000 | 6 | 1982 | 2016 | ||||||||
|
1.000 | 0.120 | 15 | 72349101 | missense variant | C/A;T | snv | 8.0E-06; 4.0E-06 |
|
0.800 | 1.000 | 3 | 1988 | 2016 | ||||||||
|
0.925 | 0.160 | 15 | 72345540 | missense variant | C/T | snv |
|
0.800 | 1.000 | 1 | 2008 | 2012 | |||||||||
|
0.851 | 0.160 | 15 | 72353106 | missense variant | G/A | snv | 2.0E-05 |
|
0.800 | 1.000 | 1 | 1988 | 2016 | ||||||||
|
0.925 | 0.160 | 15 | 72353130 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 |
|
0.800 | 1.000 | 1 | 1988 | 2016 | |||||||
|
0.925 | 0.120 | 15 | 72346597 | missense variant | C/G | snv | 8.0E-06 | 2.8E-05 |
|
0.800 | 1.000 | 0 | 1988 | 2016 | |||||||
|
1.000 | 0.120 | 15 | 72351176 | missense variant | G/A | snv |
|
0.800 | 1.000 | 0 | 1988 | 2016 | |||||||||
|
1.000 | 0.120 | 15 | 72351173 | missense variant | A/G | snv |
|
0.800 | 1.000 | 0 | 1988 | 2016 | |||||||||
|
1.000 | 0.120 | 15 | 72355591 | missense variant | A/C | snv |
|
0.800 | 1.000 | 0 | 1988 | 2016 | |||||||||
|
0.925 | 0.160 | 15 | 72346296 | missense variant | C/G;T | snv |
|
0.800 | 1.000 | 0 | 1988 | 2016 | |||||||||
|
1.000 | 0.120 | 15 | 72375857 | missense variant | A/C | snv |
|
0.800 | 1.000 | 0 | 1988 | 2016 | |||||||||
|
0.925 | 0.160 | 15 | 72346679 | missense variant | C/G;T | snv | 1.0E-04 |
|
0.800 | 1.000 | 0 | 1988 | 2016 | ||||||||
|
0.925 | 0.160 | 15 | 72356531 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 0 | 1988 | 2016 | ||||||||
|
1.000 | 0.120 | 15 | 72346271 | missense variant | T/A | snv | 4.0E-06 |
|
0.800 | 1.000 | 0 | 1988 | 2016 | ||||||||
|
0.925 | 0.160 | 15 | 72346579 | frameshift variant | -/GATA | delins | 4.0E-06; 8.0E-04 | 4.5E-04 |
|
0.710 | 1.000 | 25 | 1988 | 2019 | |||||||
|
1.000 | 0.120 | 15 | 72348047 | splice donor variant | C/A;G;T | snv | 2.2E-04 |
|
0.700 | 1.000 | 12 | 1991 | 2016 | ||||||||
|
1.000 | 0.120 | 15 | 72346234 | splice donor variant | C/A;G | snv | 1.2E-04 | 2.1E-05 |
|
0.700 | 1.000 | 8 | 1988 | 2005 |