Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.752 | 0.360 | 17 | 7676381 | splice donor variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
12 | 0.752 | 0.360 | 17 | 7675052 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
57 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
78 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 0 | |||||||
|
47 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
18 | 0.716 | 0.360 | 17 | 7673821 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 17 | 7675130 | frameshift variant | -/CCATGGC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 204190573 | missense variant | G/T | snv | 4.0E-03 | 1.5E-03 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.080 | 1 | 204190633 | missense variant | G/A;C;T | snv | 5.8E-05; 1.4E-03; 4.2E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 1 | 204190681 | missense variant | G/A | snv | 2.0E-05 | 7.0E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.080 | 6 | 105078626 | missense variant | A/G | snv | 3.5E-03 | 3.8E-03 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.080 | 12 | 57013599 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 6 | 151808345 | missense variant | G/A | snv | 3.3E-04 | 1.4E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
4 | 0.851 | 0.080 | 6 | 105080213 | 3 prime UTR variant | T/A | snv | 0.52 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
10 | 0.807 | 0.280 | 6 | 104960124 | intron variant | A/C | snv | 0.65 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 19 | 920642 | missense variant | T/A;C | snv | 0.78 | 0.010 | 1.000 | 1 | 2017 | 2017 |