| 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 | 0.240 | 1 | 147773383 | upstream gene variant | T/A | snv | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.790 | 0.320 | 2 | 112836807 | 5 prime UTR variant | T/A | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.080 | 9 | 4719292 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
1.000 | 0.080 | 9 | 4713088 | missense variant | C/A | snv | 8.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.742 | 0.520 | 10 | 52771740 | upstream gene variant | T/C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.742 | 0.480 | 10 | 52771739 | upstream gene variant | A/G | snv | 7.6E-04 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.776 | 0.400 | 13 | 113105794 | 5 prime UTR variant | C/A | snv | 4.0E-04 | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.851 | 0.240 | 16 | 56961915 | upstream gene variant | G/A | snv | 2.1E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.776 | 0.320 | 19 | 40991226 | upstream gene variant | T/C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 20 | 44401424 | missense variant | G/A | snv | 2.0E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 1993 | 1993 | |||||||
|
1.000 | 0.080 | X | 139530846 | missense variant | T/C | snv |
|
0.800 | 1.000 | 22 | 1983 | 2015 | |||||||||
|
1.000 | 0.080 | X | 139548387 | missense variant | G/A | snv |
|
0.700 | 1.000 | 20 | 1983 | 2015 | |||||||||
|
1.000 | 0.080 | X | 139561638 | missense variant | T/G | snv |
|
0.700 | 1.000 | 20 | 1983 | 2015 | |||||||||
|
1.000 | 0.080 | X | 139537049 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 20 | 1983 | 2015 | |||||||||
|
1.000 | 0.080 | X | 139562031 | missense variant | G/A | snv | 8.2E-05 | 6.6E-05 |
|
0.700 | 1.000 | 20 | 1983 | 2015 | |||||||
|
0.925 | 0.080 | X | 139537144 | stop gained | C/T | snv |
|
0.710 | 1.000 | 6 | 1990 | 2016 | |||||||||
|
0.882 | 0.080 | X | 139561566 | missense variant | G/A | snv |
|
0.810 | 1.000 | 6 | 1989 | 2018 | |||||||||
|
0.925 | 0.080 | X | 139541114 | missense variant | G/A | snv | 1.1E-05 | 3.8E-05 |
|
0.800 | 1.000 | 5 | 1989 | 2013 | |||||||
|
1.000 | 0.080 | X | 139551112 | missense variant | C/A;T | snv | 5.5E-06 |
|
0.810 | 1.000 | 3 | 2012 | 2016 | ||||||||
|
0.882 | 0.080 | X | 139561710 | missense variant | C/T | snv |
|
0.800 | 1.000 | 3 | 1991 | 2012 | |||||||||
|
1.000 | 0.080 | X | 139537139 | missense variant | A/T | snv |
|
0.800 | 1.000 | 2 | 2012 | 2013 | |||||||||
|
0.925 | 0.080 | X | 139537145 | missense variant | G/A | snv | 5.5E-06 |
|
0.800 | 1.000 | 2 | 2012 | 2013 | ||||||||
|
1.000 | 0.080 | X | 139537158 | missense variant | A/C | snv |
|
0.800 | 1.000 | 2 | 2012 | 2013 | |||||||||
|
1.000 | 0.080 | X | 139541076 | missense variant | A/G | snv |
|
0.800 | 1.000 | 2 | 2012 | 2013 | |||||||||
|
1.000 | 0.080 | X | 139541085 | splice acceptor variant | A/C | snv |
|
0.800 | 1.000 | 2 | 2012 | 2013 |