| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.200 | 7 | 116771936 | missense variant | C/T | snv | 7.9E-03 | 9.0E-03 |
|
0.700 | 1.000 | 1 | 1975 | 1975 | |||||||
|
0.742 | 0.320 | 18 | 52906232 | missense variant | C/A;G | snv | 0.45 |
|
0.010 | 1.000 | 1 | 1997 | 1997 | ||||||||
|
0.925 | 0.120 | 7 | 116783420 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.827 | 0.200 | 7 | 116783360 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.724 | 0.280 | 3 | 41224633 | missense variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.882 | 0.160 | 7 | 116783353 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.851 | 0.120 | 4 | 1806157 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
0.925 | 0.120 | 7 | 116777403 | missense variant | G/A | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 1999 | 1999 | ||||||||
|
0.925 | 0.240 | 5 | 177096737 | missense variant | G/A | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.742 | 0.520 | 8 | 38414790 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 |
|
0.710 | 1.000 | 3 | 1999 | 2001 | ||||||||
|
0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
0.716 | 0.400 | 4 | 1804372 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
0.807 | 0.120 | 7 | 116783374 | missense variant | T/G | snv |
|
0.700 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
7 | 116777427 | missense variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2002 | 2002 | |||||||||||
|
0.851 | 0.240 | 4 | 1804365 | missense variant | A/T | snv |
|
0.700 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
5 | 112839714 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||||
|
0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 |
|
0.740 | 1.000 | 5 | 1999 | 2005 | ||||||||
|
0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins |
|
0.020 | 1.000 | 2 | 2003 | 2005 | |||||||||
|
0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 |
|
0.020 | 1.000 | 2 | 2003 | 2005 | |||||||
|
1.000 | 0.120 | 4 | 1806604 | missense variant | G/T | snv |
|
0.700 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.851 | 0.120 | 3 | 9765892 | splice acceptor variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.732 | 0.200 | 5 | 112839543 | missense variant | G/C | snv | 4.4E-03 | 5.6E-03 |
|
0.010 | 1.000 | 1 | 2005 | 2005 |