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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | |||||||
|
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 | |||
|
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 | |||
|
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 | |||||
|
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 | |||||
|
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 | ||||
|
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 | |||||
|
5 | 0.882 | 0.200 | 13 | 32326591 | synonymous variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
27 | 0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
3 | 1.000 | 0.120 | 9 | 21440749 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
9 | 0.827 | 0.240 | 8 | 90042766 | missense variant | T/C | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
5 | 0.882 | 0.200 | X | 154534463 | missense variant | G/A;C | snv | 2.8E-04; 5.5E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
5 | 0.882 | 0.200 | 3 | 10039759 | synonymous variant | T/C | snv | 4.0E-05 | 2.2E-04 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
8 | 0.807 | 0.160 | 2 | 233682328 | missense variant | CG/AA | mnv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
10 | 0.790 | 0.240 | 4 | 69098619 | missense variant | AT/TC | mnv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
2 | 8 | 38996229 | missense variant | T/C | snv | 8.0E-06 | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||||
|
4 | 0.925 | 0.120 | 1 | 165698515 | missense variant | C/T | snv | 4.2E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
38 | 0.627 | 0.480 | 3 | 9756778 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
4 | 0.925 | 0.080 | 3 | 9765977 | missense variant | C/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 |