Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
56 | 0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 | 0.050 | 0.400 | 5 | 1996 | 2014 | |||
|
6 | 0.851 | 0.160 | 17 | 43093010 | missense variant | G/A | snv | 1.7E-03 | 1.4E-03 | 0.020 | 1.000 | 2 | 1996 | 1998 | |||
|
10 | 0.807 | 0.240 | 3 | 37048955 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 1996 | 1996 | |||||
|
2 | 2 | 47476405 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 1996 | 1996 | |||||||
|
17 | 0.716 | 0.400 | 8 | 18400593 | missense variant | G/A | snv | 0.27 | 0.27 | 0.030 | 1.000 | 3 | 1997 | 2014 | |||
|
14 | 0.742 | 0.320 | 8 | 18400860 | missense variant | G/A | snv | 5.8E-02 | 3.9E-02 | 0.020 | 1.000 | 2 | 1997 | 2014 | |||
|
4 | 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 | ||||
|
11 | 0.776 | 0.240 | 8 | 18400484 | synonymous variant | C/T | snv | 0.36 | 0.36 | 0.010 | 1.000 | 1 | 1997 | 1997 | |||
|
36 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.100 | 0.813 | 16 | 1998 | 2016 | |||||
|
42 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.100 | 0.813 | 16 | 1998 | 2016 | |||
|
16 | 0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 | 0.020 | 1.000 | 2 | 1998 | 2011 | ||||
|
2 | 4 | 73410405 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||||
|
2 | 5 | 112838427 | missense variant | A/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||||
|
8 | 0.851 | 0.200 | 17 | 7670700 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
102 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 0.020 | 0.500 | 2 | 1999 | 2015 | ||||
|
65 | 0.574 | 0.680 | 1 | 169546513 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
82 | 0.547 | 0.720 | 11 | 46739084 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
10 | 0.807 | 0.160 | 17 | 43104122 | missense variant | C/A;G | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2000 | 2005 | ||||
|
8 | 0.827 | 0.160 | X | 67717484 | missense variant | G/A;C;T | snv | 2.2E-05; 1.1E-05; 9.1E-04 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.070 | 1.000 | 7 | 2001 | 2014 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.050 | 1.000 | 5 | 2001 | 2010 | |||||
|
10 | 0.790 | 0.280 | 10 | 43113628 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
8 | 0.807 | 0.280 | 10 | 43113628 | missense variant | GC/AT;CT;TT | mnv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.100 | 0.986 | 69 | 2002 | 2020 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.100 | 0.985 | 68 | 2002 | 2020 |