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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 9 | 21970929 | missense variant | G/A;C | snv | 5.6E-04 | 2.6E-03 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.040 | 10 | 89014205 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 10 | 89008907 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 10 | 89010779 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 9 | 95467191 | missense variant | C/A;T | snv | 4.0E-06; 3.8E-04 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.040 | 9 | 21970980 | missense variant | C/A;G | snv | 1.3E-03; 4.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 9 | 95449149 | missense variant | C/T | snv | 2.4E-05 | 0.700 | 0 | |||||||
|
12 | 0.752 | 0.240 | 17 | 7674884 | missense variant | A/C;T | snv | 0.010 | 1.000 | 1 | 1993 | 1993 | |||||
|
16 | 0.732 | 0.280 | 16 | 89919746 | missense variant | G/A | snv | 0.15 | 8.3E-02 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
10 | 0.807 | 0.120 | 7 | 116783374 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
17 | 0.732 | 0.200 | 5 | 112839543 | missense variant | G/C | snv | 4.4E-03 | 5.6E-03 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
15 | 0.752 | 0.240 | 17 | 7674257 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
37 | 0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
52 | 0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
59 | 0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
23 | 0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
22 | 0.689 | 0.400 | 6 | 36684194 | missense variant | C/A;T | snv | 0.15; 4.4E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
13 | 0.752 | 0.240 | 12 | 47857185 | missense variant | G/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
32 | 0.641 | 0.440 | 17 | 7674888 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
4 | 0.882 | 0.120 | 18 | 54294435 | missense variant | G/A | snv | 0.72 | 0.78 | 0.020 | 1.000 | 2 | 2005 | 2008 | |||
|
55 | 0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
30 | 0.653 | 0.400 | 14 | 61740857 | missense variant | G/A | snv | 8.9E-03 | 7.0E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
54 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
31 | 0.649 | 0.520 | 20 | 46014472 | missense variant | G/A;C | snv | 0.16 | 0.010 | 1.000 | 1 | 2008 | 2008 |