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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.827 | 0.160 | 7 | 116777410 | missense variant | A/C;G | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
7 | 0.827 | 0.200 | 7 | 116783360 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 7 | 116782027 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.120 | 7 | 116783329 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.160 | 7 | 116783353 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 7 | 116782048 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.280 | 3 | 10149871 | stop gained | C/A;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.925 | 0.120 | 7 | 116777403 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.120 | 7 | 116778827 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 1997 | 1997 | |||||
|
3 | 0.925 | 0.120 | 21 | 31266532 | synonymous variant | C/T | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
3 | 0.925 | 0.120 | 2 | 68382602 | missense variant | G/A;C | snv | 4.8E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
9 | 0.776 | 0.320 | 3 | 10149885 | missense variant | C/G | snv | 2.0E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
8 | 0.776 | 0.320 | 3 | 10142181 | missense variant | T/A;C | snv | 0.020 | 1.000 | 2 | 1999 | 2003 | |||||
|
5 | 0.827 | 0.160 | 8 | 109578004 | missense variant | A/G | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
10 | 0.776 | 0.320 | 3 | 10142139 | missense variant | T/C | snv | 1.3E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
4 | 0.882 | 0.120 | 19 | 38287929 | missense variant | C/T | snv | 1.6E-03 | 1.9E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
56 | 0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
6 | 0.807 | 0.240 | 3 | 10146566 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
73 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
7 | 0.790 | 0.120 | 8 | 47936435 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
23 | 0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||||
|
38 | 0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 | 0.010 | < 0.001 | 1 | 2007 | 2007 |