| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.040 | 10 | 133394281 | missense variant | C/T | snv | 2.1E-05 |
|
0.010 | 1.000 | 1 | 1993 | 1993 | ||||||||
|
0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.925 | 0.040 | 14 | 24575388 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.925 | 0.040 | 8 | 85465317 | missense variant | G/A;T | snv | 2.0E-05; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.627 | 0.600 | 21 | 45531904 | missense variant | C/A;T | snv | 9.7E-06; 1.4E-05 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.672 | 0.360 | 6 | 29944350 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.827 | 0.120 | 19 | 853022 | missense variant | G/A;C | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.790 | 0.160 | 21 | 45512196 | missense variant | A/G | snv | 2.1E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.827 | 0.120 | 9 | 21971191 | missense variant | G/A;C;T | snv | 9.1E-06; 4.5E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.807 | 0.200 | 8 | 63026205 | missense variant | G/A | snv | 8.8E-02 | 7.8E-02 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.827 | 0.120 | 9 | 130862976 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
1.000 | 0.040 | 17 | 42300731 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.827 | 0.120 | 9 | 130862919 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.030 | 1.000 | 3 | 2002 | 2006 | |||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.020 | 1.000 | 2 | 2001 | 2006 | |||||||||
|
0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.851 | 0.040 | 13 | 28049450 | missense variant | C/T | snv | 1.7E-02 | 1.6E-02 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.742 | 0.280 | 19 | 40257052 | stop gained | C/A;T | snv |
|
0.020 | 1.000 | 2 | 2007 | 2008 | |||||||||
|
1.000 | 0.040 | 5 | 132481024 | intron variant | T/C | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.807 | 0.120 | 13 | 28018505 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.752 | 0.240 | 12 | 47857185 | missense variant | G/A | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 7 | 50400428 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 |