| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 94447287 | missense variant | C/T | snv | 2.0E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||||
|
11 | 94485928 | missense variant | T/A | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 0 | ||||||||||||
|
11 | 94456331 | missense variant | C/T | snv | 1.6E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||||
|
0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 |
|
0.100 | 0.923 | 13 | 1993 | 2019 | ||||||||
|
0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.050 | 0.800 | 5 | 1993 | 2019 | ||||||||
|
0.882 | 0.080 | 17 | 7674225 | missense variant | C/T | snv |
|
0.010 | < 0.001 | 1 | 1993 | 1993 | |||||||||
|
17 | 7675199 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 1993 | 1993 | |||||||||||
|
17 | 7673598 | missense variant | G/C;T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 1993 | 1993 | ||||||||||
|
0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 |
|
0.050 | 0.400 | 5 | 1996 | 2014 | |||||||
|
0.851 | 0.160 | 17 | 43093010 | missense variant | G/A | snv | 1.7E-03 | 1.4E-03 |
|
0.020 | 1.000 | 2 | 1996 | 1998 | |||||||
|
0.807 | 0.240 | 3 | 37048955 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 1996 | 1996 | |||||||||
|
2 | 47476405 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 1996 | 1996 | |||||||||||
|
0.716 | 0.400 | 8 | 18400593 | missense variant | G/A | snv | 0.27 | 0.27 |
|
0.030 | 1.000 | 3 | 1997 | 2014 | |||||||
|
0.742 | 0.320 | 8 | 18400860 | missense variant | G/A | snv | 5.8E-02 | 3.9E-02 |
|
0.020 | 1.000 | 2 | 1997 | 2014 | |||||||
|
0.925 | 0.080 | 6 | 151842622 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06; 1.6E-03 |
|
0.010 | 1.000 | 1 | 1997 | 1997 | ||||||||
|
0.776 | 0.240 | 8 | 18400484 | synonymous variant | C/T | snv | 0.36 | 0.36 |
|
0.010 | 1.000 | 1 | 1997 | 1997 | |||||||
|
0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins |
|
0.100 | 0.824 | 17 | 1998 | 2016 | |||||||||
|
0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 |
|
0.100 | 0.824 | 17 | 1998 | 2016 | |||||||
|
0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 |
|
0.020 | 1.000 | 2 | 1998 | 2011 | ||||||||
|
4 | 73410405 | missense variant | G/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 1998 | 1998 | ||||||||||
|
5 | 112838427 | missense variant | A/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 1998 | 1998 | ||||||||||
|
0.851 | 0.200 | 17 | 7670700 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 |
|
0.020 | 0.500 | 2 | 1999 | 2015 | ||||||||
|
1.000 | 0.160 | X | 67717574 | missense variant | A/G;T | snv | 2.2E-05; 5.5E-06 |
|
0.010 | 1.000 | 1 | 1999 | 1999 | ||||||||
|
0.574 | 0.680 | 1 | 169546513 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 1999 | 1999 |