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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 7 | 20658647 | missense variant | A/G | snv | 0.33 | 0.40 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 16 | 67658771 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 16 | 89984281 | intron variant | G/T | snv | 0.60 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
0.925 | 0.120 | 16 | 90000528 | non coding transcript exon variant | A/C;T | snv |
|
0.800 | 1.000 | 2 | 2009 | 2017 | |||||||||
|
1.000 | 0.040 | 16 | 90001533 | non coding transcript exon variant | G/A | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 16 | 89979578 | non coding transcript exon variant | A/G | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 16 | 89977620 | non coding transcript exon variant | C/G;T | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 16 | 89984472 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.851 | 0.080 | 7 | 16944656 | intron variant | C/T | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 21 | 44297667 | synonymous variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.040 | 14 | 104776711 | missense variant | G/T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.040 | 14 | 104780190 | missense variant | G/A | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.742 | 0.280 | 19 | 40257052 | stop gained | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.763 | 0.320 | 1 | 243695714 | missense variant | C/T | snv |
|
0.710 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 0.040 | 16 | 89319153 | intron variant | C/T | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.120 | 5 | 112819272 | missense variant | C/A;G;T | snv | 4.0E-06; 6.7E-04 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.716 | 0.280 | 5 | 112837567 | missense variant | A/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.689 | 0.400 | 13 | 49630893 | stop gained | G/A | snv | 9.7E-03 | 7.9E-03 |
|
0.020 | 1.000 | 2 | 2006 | 2006 | |||||||
|
0.708 | 0.320 | 13 | 49630889 | missense variant | T/C;G | snv | 0.39 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.724 | 0.320 | 13 | 49630894 | stop gained | G/A | snv | 4.2E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.040 | 2 | 175093177 | frameshift variant | -/G | ins |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 |
|
0.810 | 1.000 | 3 | 2011 | 2017 | |||||||
|
0.827 | 0.080 | 11 | 108227849 | missense variant | C/G;T | snv | 7.1E-03 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.851 | 0.360 | 11 | 108267344 | splice donor variant | T/C | snv | 4.0E-06 |
|
0.700 | 0 |