| 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 | 32 | 1989 | 2019 | |||||||||
|
0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv |
|
0.800 | 1.000 | 30 | 1989 | 2019 | |||||||||
|
0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv |
|
0.780 | 1.000 | 21 | 1989 | 2016 | |||||||||
|
0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv |
|
0.800 | 1.000 | 16 | 2005 | 2019 | |||||||||
|
0.667 | 0.400 | 1 | 114713907 | missense variant | T/A;G | snv |
|
0.700 | 1.000 | 13 | 1989 | 2014 | |||||||||
|
0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 |
|
0.740 | 1.000 | 11 | 1989 | 2016 | ||||||||
|
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 | ||||||||
|
0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv |
|
0.720 | 1.000 | 10 | 1989 | 2016 | |||||||||
|
0.708 | 0.320 | 1 | 114716124 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 9 | 1989 | 2014 | |||||||||
|
1.000 | 0.040 | 1 | 114716109 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.710 | 1.000 | 3 | 2001 | 2014 | ||||||||
|
1.000 | 0.040 | 1 | 226376990 | intron variant | T/C | snv | 0.58 |
|
0.820 | 1.000 | 2 | 2011 | 2013 | ||||||||
|
1.000 | 0.040 | 1 | 150887995 | intron variant | C/T | snv | 0.41 |
|
0.800 | 1.000 | 2 | 2011 | 2017 | ||||||||
|
0.851 | 0.040 | 1 | 236021631 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.882 | 0.120 | 1 | 199936700 | intergenic variant | C/T | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.851 | 0.120 | 1 | 25385838 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.776 | 0.280 | 1 | 206770623 | intron variant | C/A;T | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 1 | 226367250 | non coding transcript exon variant | T/C | snv | 5.0E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.080 | 1 | 45340381 | 5 prime UTR variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 1 | 156876514 | missense variant | C/G;T | snv | 6.4E-05; 2.4E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.763 | 0.320 | 1 | 243695714 | missense variant | C/T | snv |
|
0.710 | 1.000 | 1 | 2008 | 2008 |