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 | 0.080 | 17 | 7674225 | missense variant | C/T | snv |
|
0.010 | < 0.001 | 1 | 1993 | 1993 | |||||||||
|
0.724 | 0.240 | 17 | 7675208 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 1996 | 1996 | |||||||||
|
0.882 | 0.080 | 7 | 100860016 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||
|
0.882 | 0.080 | 12 | 109908873 | missense variant | G/A | snv | 3.2E-05 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||
|
0.807 | 0.120 | 4 | 85994925 | missense variant | C/T | snv | 2.8E-05 | 4.9E-05 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.807 | 0.120 | 1 | 3730017 | missense variant | C/G;T | snv | 8.2E-06; 8.2E-06 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.851 | 0.160 | 10 | 124408601 | missense variant | C/A;T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.882 | 0.080 | 10 | 124412125 | missense variant | C/G;T | snv | 2.4E-05; 3.2E-05 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.716 | 0.200 | 3 | 37025749 | missense variant | T/A | snv | 2.7E-03 | 7.5E-04 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.882 | 0.080 | 5 | 112835135 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.882 | 0.080 | 1 | 45329412 | missense variant | G/A;C | snv | 8.4E-03 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.807 | 0.160 | 1 | 45334484 | missense variant | C/A;T | snv | 4.8E-02 | 4.8E-02 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.851 | 0.120 | 3 | 9750336 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.851 | 0.080 | 3 | 9765858 | missense variant | T/C | snv | 8.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.827 | 0.120 | 5 | 112819214 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.649 | 0.520 | 20 | 46014472 | missense variant | G/A;C | snv | 0.16 |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | ||||||||
|
0.827 | 0.120 | 3 | 50274469 | missense variant | C/T | snv | 0.12 | 9.9E-02 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.667 | 0.520 | 20 | 46013767 | missense variant | G/C;T | snv | 0.88; 1.6E-05 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.882 | 0.080 | 17 | 7670682 | missense variant | C/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.882 | 0.080 | 1 | 25863774 | synonymous variant | C/T | snv | 1.6E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 |
|
0.020 | 0.500 | 2 | 2004 | 2006 | ||||||||
|
0.716 | 0.360 | 21 | 31659813 | missense variant | T/C;G | snv | 8.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.827 | 0.160 | 9 | 21971187 | stop gained | G/A;C | snv | 4.6E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 |