| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.120 | 21 | 26051171 | missense variant | T/A;C | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 1997 | 1997 | ||||||||
|
0.701 | 0.240 | 1 | 226885603 | missense variant | A/T | snv |
|
0.010 | 1.000 | 1 | 1997 | 1997 | |||||||||
|
0.882 | 0.080 | 17 | 49973938 | missense variant | A/T | snv |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.851 | 0.080 | 17 | 51171503 | missense variant | A/G | snv |
|
0.020 | 1.000 | 2 | 1995 | 1999 | |||||||||
|
0.807 | 0.120 | 14 | 73217147 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
0.732 | 0.240 | 20 | 4699848 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||
|
0.851 | 0.160 | 20 | 4699870 | missense variant | A/G | snv |
|
0.020 | 1.000 | 2 | 1997 | 2000 | |||||||||
|
0.807 | 0.120 | 14 | 73173577 | missense variant | C/G;T | snv |
|
0.030 | 1.000 | 3 | 1998 | 2001 | |||||||||
|
0.807 | 0.120 | 14 | 73192844 | missense variant | T/C | snv |
|
0.020 | 1.000 | 2 | 2000 | 2001 | |||||||||
|
0.882 | 0.080 | 17 | 45991557 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.807 | 0.120 | 4 | 85994925 | missense variant | C/T | snv | 2.8E-05 | 4.9E-05 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.882 | 0.080 | 4 | 85931021 | missense variant | C/T | snv | 2.0E-05 | 3.5E-05 |
|
0.010 | < 0.001 | 1 | 2001 | 2001 | |||||||
|
0.807 | 0.120 | 1 | 3730017 | missense variant | C/G;T | snv | 8.2E-06; 8.2E-06 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.807 | 0.120 | 14 | 73198117 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
0.882 | 0.080 | 1 | 3683085 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | < 0.001 | 1 | 2001 | 2001 | |||||||
|
0.882 | 0.080 | 4 | 85570622 | synonymous variant | G/A | snv | 1.6E-05 |
|
0.010 | < 0.001 | 1 | 2001 | 2001 | ||||||||
|
0.701 | 0.280 | 17 | 7675125 | missense variant | A/C;G;T | snv |
|
0.010 | < 0.001 | 1 | 2001 | 2001 | |||||||||
|
0.827 | 0.120 | 11 | 2169802 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
0.851 | 0.080 | 1 | 10303606 | missense variant | G/T | snv | 1.8E-02 | 1.9E-02 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.882 | 0.080 | 1 | 26022729 | missense variant | C/G;T | snv | 8.4E-04; 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2004 | 2004 | ||||||||
|
0.827 | 0.120 | 5 | 36674078 | missense variant | C/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.790 | 0.080 | 1 | 7984981 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.882 | 0.080 | 22 | 28689164 | missense variant | A/C;G;T | snv | 1.3E-05; 7.3E-05 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.807 | 0.080 | 1 | 7962863 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 |