| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.240 | 17 | 7674884 | missense variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 1993 | 1993 | |||||||||
|
0.732 | 0.280 | 16 | 89919746 | missense variant | G/A | snv | 0.15 | 8.3E-02 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.807 | 0.120 | 7 | 116783374 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
0.732 | 0.200 | 5 | 112839543 | missense variant | G/C | snv | 4.4E-03 | 5.6E-03 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.752 | 0.240 | 17 | 7674257 | missense variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | ||||||||
|
0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.689 | 0.400 | 6 | 36684194 | missense variant | C/A;T | snv | 0.15; 4.4E-05 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.752 | 0.240 | 12 | 47857185 | missense variant | G/A | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.641 | 0.440 | 17 | 7674888 | missense variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.882 | 0.120 | 18 | 54294435 | missense variant | G/A | snv | 0.72 | 0.78 |
|
0.020 | 1.000 | 2 | 2005 | 2008 | |||||||
|
0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.653 | 0.400 | 14 | 61740857 | missense variant | G/A | snv | 8.9E-03 | 7.0E-03 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.649 | 0.520 | 20 | 46014472 | missense variant | G/A;C | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.790 | 0.160 | 2 | 99439044 | missense variant | A/G | snv | 0.58 | 0.61 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.120 | 2 | 99438696 | missense variant | T/C | snv | 0.13 | 0.17 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.851 | 0.080 | 15 | 75355623 | 3 prime UTR variant | G/C | snv | 0.64 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.120 | 15 | 75351418 | intron variant | G/T | snv | 0.43 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.040 | 12 | 95980836 | missense variant | C/T | snv | 0.85 | 0.86 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.080 | 8 | 11770112 | 5 prime UTR variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.020 | 1.000 | 2 | 2005 | 2009 |