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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 1 | 222098425 | intron variant | C/T | snv | 0.75 | 0.820 | 1.000 | 2 | 2010 | 2013 | ||||
|
1 | 1.000 | 0.080 | 3 | 138994862 | regulatory region variant | A/G;T | snv | 0.810 | 1.000 | 2 | 2010 | 2013 | |||||
|
1 | 1.000 | 0.080 | 15 | 55902679 | intron variant | T/A;C | snv | 0.810 | 1.000 | 2 | 2010 | 2013 | |||||
|
1 | 1.000 | 0.080 | 3 | 50314769 | upstream gene variant | A/G | snv | 0.10 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.080 | 18 | 70196537 | missense variant | A/C;G | snv | 1.6E-05; 3.1E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 1 | 222066192 | upstream gene variant | T/C | snv | 0.28 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.080 | 17 | 10409361 | missense variant | A/C;G;T | snv | 4.0E-06; 1.2E-05; 3.1E-04; 4.0E-06 | 1.3E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
107 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.080 | 11 | 218874 | stop gained | C/G;T | snv | 5.0E-04 | 2.4E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 1.000 | 0.080 | 6 | 656415 | missense variant | C/G | snv | 1.6E-03 | 5.7E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 15 | 55924595 | non coding transcript exon variant | C/T | snv | 0.33 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 3 | 139122751 | intron variant | T/C | snv | 0.70 | 0.010 | 1.000 | 1 | 2013 | 2013 |