| 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 | 0.080 | 12 | 6019472 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2013 | 2018 | ||||||||
|
0.790 | 0.120 | X | 48792371 | missense variant | G/A | snv | 9.5E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 2 | 85553045 | missense variant | A/C | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
0.851 | 0.200 | 14 | 94378561 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 1992 | 1992 | |||||||||
|
0.925 | 0.080 | 4 | 186280258 | missense variant | T/C | snv | 1.1E-03 | 6.4E-04 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
8 | 26864323 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
12 | 53315733 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||||
|
0.925 | 0.080 | 3 | 93900887 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 1997 | 1997 | |||||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.010 | 1.000 | 1 | 1997 | 1997 | |||||||
|
0.763 | 0.320 | 10 | 73913343 | missense variant | T/C | snv | 0.75 | 0.81 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 19 | 3600456 | missense variant | C/A | snv | 5.8E-05 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 1994 | 1994 | ||||||||
|
1.000 | 19 | 3595810 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
1.000 | 0.080 | 11 | 46739326 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.827 | 0.400 | 11 | 4074620 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
3 | 151338482 | missense variant | G/A | snv | 4.0E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.120 | 9 | 104814211 | stop gained | G/A | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 12 | 6013630 | missense variant | G/T | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.925 | 0.120 | 16 | 31091334 | missense variant | G/A;C | snv | 7.2E-05; 8.1E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
4 | 186288592 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
0.790 | 0.240 | 9 | 121312479 | synonymous variant | G/A | snv | 8.0E-05 | 3.5E-05 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
0.010 | 1.000 | 1 | 2014 | 2014 |