| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.120 | 7 | 99859982 | missense variant | C/A;G | snv | 6.5E-02 | 0.13 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.851 | 0.080 | 19 | 50858171 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.882 | 0.200 | X | 67546162 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.827 | 0.120 | 8 | 16155085 | stop gained | G/A;C | snv | 8.3E-03; 2.8E-05 |
|
0.060 | 1.000 | 6 | 2004 | 2006 | ||||||||
|
0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins |
|
0.030 | 1.000 | 3 | 2000 | 2006 | |||||||||
|
0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 |
|
0.030 | 1.000 | 3 | 2000 | 2006 | |||||||
|
0.882 | 0.080 | 8 | 16168568 | missense variant | C/A;G;T | snv | 1.6E-03; 4.0E-06 |
|
0.030 | 1.000 | 3 | 2003 | 2006 | ||||||||
|
0.827 | 0.080 | 17 | 12995026 | missense variant | C/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.925 | 0.080 | 3 | 9751856 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.925 | 0.080 | 19 | 49108358 | missense variant | G/A | snv | 8.3E-05 | 9.1E-05 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.630 | 0.440 | 1 | 225838705 | missense variant | A/G;T | snv | 0.19; 2.8E-05 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.925 | 0.080 | 19 | 50873774 | non coding transcript exon variant | G/A | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.925 | 0.080 | 15 | 51222375 | missense variant | G/A;T | snv | 2.4E-02 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.701 | 0.280 | 8 | 89971232 | missense variant | G/A;C | snv | 2.5E-03 |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | ||||||||
|
0.925 | 0.080 | 19 | 10271151 | 5 prime UTR variant | A/C | snv | 1.6E-02 | 6.7E-02 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.882 | 0.080 | 1 | 22913757 | stop gained | A/G;T | snv | 4.2E-06; 2.9E-03 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.925 | 0.080 | 12 | 102497974 | regulatory region variant | A/G | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.925 | 0.080 | 19 | 50850345 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.851 | 0.120 | 1 | 119514623 | missense variant | C/A | snv | 0.75 |
|
0.020 | 1.000 | 2 | 2002 | 2007 | ||||||||
|
0.882 | 0.080 | X | 67723701 | missense variant | C/T | snv |
|
0.020 | 1.000 | 2 | 1997 | 2007 | |||||||||
|
0.925 | 0.080 | 1 | 119514623 | missense variant | C/A | snv | 0.76 |
|
0.020 | 1.000 | 2 | 2002 | 2007 | ||||||||
|
0.732 | 0.560 | 9 | 117702866 | upstream gene variant | T/C | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.716 | 0.360 | 21 | 31659813 | missense variant | T/C;G | snv | 8.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.827 | 0.120 | 9 | 121665094 | intron variant | G/T | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2007 | 2007 |