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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | 9 | 21971099 | missense variant | C/G;T | snv |
|
0.710 | 1.000 | 1 | 1994 | 2013 | |||||||||
|
0.807 | 0.240 | 9 | 21974757 | missense variant | C/A;G;T | snv | 1.7E-05; 1.3E-05 |
|
0.750 | 1.000 | 5 | 1995 | 2015 | ||||||||
|
0.851 | 0.200 | 9 | 21970982 | missense variant | A/T | snv |
|
0.710 | 1.000 | 1 | 1995 | 2013 | |||||||||
|
0.827 | 0.120 | 9 | 21971191 | missense variant | G/A;C;T | snv | 9.1E-06; 4.5E-06 |
|
0.070 | 1.000 | 7 | 1997 | 2015 | ||||||||
|
0.827 | 0.120 | 9 | 21971200 | missense variant | C/G;T | snv | 9.0E-06 |
|
0.060 | 1.000 | 6 | 1997 | 2007 | ||||||||
|
0.790 | 0.160 | 9 | 21971019 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 1997 | 1997 | |||||||||
|
0.925 | 0.040 | 9 | 21971007 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 1997 | 1997 | |||||||||
|
0.925 | 0.080 | 9 | 21971064 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 1997 | 1997 | |||||||||
|
0.683 | 0.320 | 9 | 21970917 | missense variant | C/A;G;T | snv | 2.1E-02 |
|
0.030 | 1.000 | 3 | 1998 | 2019 | ||||||||
|
1.000 | 0.080 | 9 | 21971170 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.763 | 0.200 | 9 | 21971058 | missense variant | C/A;G;T | snv | 8.5E-06; 4.3E-06 |
|
0.800 | 1.000 | 10 | 1999 | 2016 | ||||||||
|
0.851 | 0.200 | 9 | 21970982 | missense variant | A/T | snv |
|
0.050 | 1.000 | 5 | 1999 | 2015 | |||||||||
|
0.925 | 0.120 | 9 | 21971147 | missense variant | T/C;G | snv | 4.7E-06 |
|
0.020 | 1.000 | 2 | 1999 | 2015 | ||||||||
|
0.925 | 0.120 | 9 | 21971142 | missense variant | C/G;T | snv | 1.4E-05 |
|
0.020 | 1.000 | 2 | 1999 | 2013 | ||||||||
|
0.882 | 0.120 | 9 | 21971099 | missense variant | C/G;T | snv |
|
0.020 | 1.000 | 2 | 1999 | 2013 | |||||||||
|
1.000 | 0.040 | 9 | 21971117 | missense variant | G/A;C | snv | 4.3E-06 |
|
0.010 | 1.000 | 1 | 1999 | 1999 | ||||||||
|
0.925 | 0.080 | 9 | 21971064 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
0.882 | 0.040 | 9 | 21971046 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
0.882 | 0.040 | 9 | 21971046 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
0.882 | 0.040 | 9 | 21971046 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
9 | 21974817 | missense variant | G/C | snv | 1.3E-05 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||||
|
1.000 | 0.080 | 9 | 21971097 | frameshift variant | C/- | delins |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
0.827 | 0.120 | 9 | 21971191 | missense variant | G/A;C;T | snv | 9.1E-06; 4.5E-06 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.827 | 0.120 | 9 | 21971191 | missense variant | G/A;C;T | snv | 9.1E-06; 4.5E-06 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
1.000 | 0.040 | 9 | 21971176 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2001 | 2001 |