| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv |
|
0.800 | 1.000 | 16 | 1989 | 2019 | |||||||||
|
0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv |
|
0.800 | 1.000 | 14 | 1989 | 2019 | |||||||||
|
0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv |
|
0.780 | 1.000 | 13 | 1989 | 2016 | |||||||||
|
0.667 | 0.400 | 1 | 114713907 | missense variant | T/A;G | snv |
|
0.700 | 1.000 | 13 | 1989 | 2014 | |||||||||
|
0.677 | 0.440 | 1 | 114716123 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 10 | 1989 | 2014 | ||||||||
|
0.708 | 0.320 | 1 | 114716124 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 9 | 1989 | 2014 | |||||||||
|
0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv |
|
0.720 | 1.000 | 8 | 1989 | 2016 | |||||||||
|
0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 |
|
0.740 | 1.000 | 7 | 1989 | 2016 | ||||||||
|
1.000 | 0.040 | 1 | 114716109 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.710 | 1.000 | 2 | 2001 | 2014 | ||||||||
|
1.000 | 0.040 | 1 | 150887995 | intron variant | C/T | snv | 0.41 |
|
0.800 | 1.000 | 2 | 2011 | 2017 | ||||||||
|
0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv |
|
0.800 | 1.000 | 1 | 2005 | 2019 | |||||||||
|
1.000 | 0.040 | 1 | 226376990 | intron variant | T/C | snv | 0.58 |
|
0.820 | 1.000 | 1 | 2011 | 2013 | ||||||||
|
0.763 | 0.320 | 1 | 243695714 | missense variant | C/T | snv |
|
0.710 | 1.000 | 0 | 2008 | 2008 | |||||||||
|
0.851 | 0.080 | 2 | 201298088 | intron variant | A/G | snv | 0.59 |
|
0.800 | 1.000 | 2 | 2011 | 2017 | ||||||||
|
0.807 | 0.200 | 2 | 201288355 | 3 prime UTR variant | T/C;G | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.827 | 0.120 | 2 | 201279205 | intron variant | T/C | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 2 | 211702102 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.040 | 2 | 211673250 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.040 | 2 | 211713583 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.040 | 2 | 211673256 | missense variant | C/T | snv | 6.8E-05 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 2 | 211705339 | missense variant | G/A;T | snv | 8.0E-06; 6.4E-04 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.080 | 2 | 38049406 | intron variant | A/G | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.040 | 2 | 201288502 | 3 prime UTR variant | C/A | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 2 | 211430974 | missense variant | C/T | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.708 | 0.400 | 3 | 41224646 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 8 | 1997 | 2014 |