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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.120 | 19 | 17881961 | missense variant | A/C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||
|
2 | 1.000 | 0.040 | 7 | 100857102 | missense variant | A/G | snv | 7.2E-05 | 1.2E-04 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
2 | 1.000 | 0.040 | 6 | 36684145 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
25 | 0.695 | 0.280 | 16 | 89919709 | missense variant | C/A;G;T | snv | 4.4E-02 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
6 | 0.827 | 0.120 | 16 | 68822063 | missense variant | G/A;T | snv | 3.3E-03; 2.4E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
27 | 0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 | 0.020 | 0.500 | 2 | 2002 | 2003 | ||||
|
13 | 0.827 | 0.120 | 9 | 21971191 | missense variant | G/A;C;T | snv | 9.1E-06; 4.5E-06 | 0.020 | 0.500 | 2 | 2002 | 2003 | ||||
|
49 | 0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
52 | 0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
6 | 0.851 | 0.160 | 10 | 124408601 | missense variant | C/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
4 | 0.882 | 0.080 | 10 | 124412125 | missense variant | C/G;T | snv | 2.4E-05; 3.2E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
1 | 16 | 89738216 | missense variant | G/A;C | snv | 1.3E-05; 3.6E-02 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.030 | 1.000 | 3 | 2003 | 2005 | |||
|
6 | 0.882 | 0.080 | 6 | 151944218 | missense variant | G/A;C | snv | 4.0E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
38 | 0.637 | 0.680 | 3 | 39265765 | missense variant | C/T | snv | 0.22 | 0.22 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
32 | 0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
11 | 0.790 | 0.200 | 2 | 47416318 | missense variant | G/A;T | snv | 1.3E-02; 2.0E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
13 | 0.732 | 0.200 | 1 | 182586014 | stop gained | C/A | snv | 3.6E-03; 4.0E-06 | 3.3E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
38 | 0.627 | 0.480 | 3 | 9756778 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
22 | 0.689 | 0.400 | 13 | 49630893 | stop gained | G/A | snv | 9.7E-03 | 7.9E-03 | 0.020 | 1.000 | 2 | 2006 | 2006 | |||
|
17 | 0.724 | 0.320 | 13 | 49630894 | stop gained | G/A | snv | 4.2E-06 | 0.020 | 1.000 | 2 | 2006 | 2006 | ||||
|
34 | 0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
10 | 0.807 | 0.280 | 2 | 201209375 | missense variant | G/A | snv | 4.2E-02 | 4.3E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
2 | 1.000 | 0.040 | 1 | 224434068 | missense variant | C/T | snv | 1.5E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
14 | 0.752 | 0.200 | 12 | 111783219 | missense variant | G/A | snv | 6.8E-05 | 7.7E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 |