| 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 | 0.080 | 9 | 78306457 | missense variant | T/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.790 | 0.160 | 9 | 96235528 | missense variant | C/A;G;T | snv | 7.2E-02 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.925 | 0.080 | 1 | 119422598 | missense variant | C/A | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.925 | 0.080 | 17 | 12996561 | missense variant | C/T | snv | 2.4E-05 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.851 | 0.280 | 2 | 31529323 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.851 | 0.160 | 11 | 65570699 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.882 | 0.080 | X | 67717495 | missense variant | G/A | snv | 7.7E-05 | 1.9E-05 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.925 | 0.080 | 19 | 50858491 | missense variant | C/A;T | snv | 8.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.925 | 0.080 | 17 | 7675212 | missense variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
0.925 | 0.080 | 7 | 95315388 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
0.827 | 0.160 | X | 67717484 | missense variant | G/A;C;T | snv | 2.2E-05; 1.1E-05; 9.1E-04 |
|
0.040 | 1.000 | 4 | 2000 | 2004 | ||||||||
|
0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.925 | 0.080 | 1 | 13780080 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.925 | 0.080 | 1 | 13780842 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.827 | 0.120 | 22 | 28712015 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.827 | 0.120 | 22 | 28719414 | start lost | T/C | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.827 | 0.120 | 22 | 28734721 | start lost | T/C | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.732 | 0.200 | 1 | 182586014 | stop gained | C/A | snv | 3.6E-03; 4.0E-06 | 3.3E-03 |
|
0.030 | 1.000 | 3 | 2004 | 2005 | |||||||
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.020 | 1.000 | 2 | 2004 | 2005 | |||||||
|
0.763 | 0.240 | 2 | 31529325 | missense variant | C/T | snv | 4.7E-04 | 1.6E-04 |
|
0.020 | 1.000 | 2 | 2001 | 2005 | |||||||
|
0.925 | 0.080 | 10 | 3781694 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.752 | 0.200 | 7 | 45921046 | missense variant | G/A;C;T | snv | 0.38 |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | ||||||||
|
0.925 | 0.080 | 8 | 16143592 | synonymous variant | G/A | snv |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | |||||||||
|
0.763 | 0.160 | 17 | 42554888 | missense variant | G/A;C;T | snv | 0.56; 9.0E-05; 1.4E-05 |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | ||||||||
|
0.925 | 0.080 | 18 | 63897160 | missense variant | A/G;T | snv | 0.28; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 |