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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 63496977 | missense variant | C/T | snv | 3.7E-05 | 4.9E-05 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 17 | 63480479 | stop gained | C/A;G;T | snv | 2.0E-05; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 63482666 | frameshift variant | TGGA/- | del |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 17 | 63483172 | stop gained | C/T | snv | 1.2E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 17 | 63488713 | stop gained | C/T | snv | 1.6E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 63490953 | splice acceptor variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 17 | 63496517 | splice donor variant | G/A;C | snv | 2.0E-05 |
|
0.700 | 0 | |||||||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
0.100 | 0.846 | 13 | 1994 | 2014 | ||||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
0.100 | 0.800 | 10 | 1995 | 2007 | ||||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 1995 | 1995 | ||||||||
|
1.000 | 0.040 | 17 | 63486654 | missense variant | G/A | snv | 2.4E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 1995 | 1995 | |||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
0.100 | 0.909 | 11 | 1996 | 2009 | ||||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
0.040 | 1.000 | 4 | 1996 | 2008 | ||||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 1996 | 1996 | ||||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
0.100 | 0.786 | 28 | 1997 | 2015 | ||||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
0.080 | 0.875 | 8 | 1997 | 2007 | ||||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
0.070 | 0.857 | 7 | 1997 | 2010 | ||||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
0.070 | 1.000 | 7 | 1997 | 2010 | ||||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
0.060 | 0.833 | 6 | 1997 | 2009 | ||||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
0.060 | 0.833 | 6 | 1997 | 2009 | ||||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
0.020 | < 0.001 | 2 | 1997 | 1999 | ||||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
0.020 | 0.500 | 2 | 1997 | 2007 | ||||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 1997 | 2000 | ||||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 1997 | 1997 | ||||||||
|
1.000 | 0.040 | 17 | 63496923 | missense variant | C/G;T | snv | 2.4E-05; 3.2E-04 |
|
0.020 | 1.000 | 2 | 1998 | 2004 |