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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
1.000 | 0.973 | 0 | 2007 | 2019 | ||||||||
|
0.724 | 0.400 | 3 | 185793899 | intron variant | G/T | snv | 0.38 |
|
1.000 | 0.977 | 0 | 2007 | 2018 | ||||||||
|
0.667 | 0.480 | 10 | 113049143 | intron variant | G/A;T | snv |
|
0.900 | 0.908 | 0 | 2006 | 2020 | |||||||||
|
0.882 | 0.120 | 7 | 127614533 | missense variant | G/A;T | snv | 1.2E-04; 9.1E-06 |
|
0.850 | 1.000 | 0 | 2001 | 2013 | ||||||||
|
0.925 | 0.200 | 17 | 37701122 | missense variant | G/C | snv | 1.9E-05 |
|
0.810 | 1.000 | 0 | 2002 | 2013 | ||||||||
|
1.000 | 0.080 | 2 | 181678529 | missense variant | C/A | snv |
|
0.800 | 1.000 | 0 | 1999 | 2013 | |||||||||
|
0.827 | 0.200 | 10 | 113047288 | intron variant | G/A;C;T | snv |
|
0.800 | 0.917 | 0 | 2006 | 2020 | |||||||||
|
1.000 | 0.080 | 11 | 45898159 | missense variant | G/A | snv |
|
0.800 | 1.000 | 0 | 2012 | 2013 | |||||||||
|
1.000 | 0.080 | 19 | 40237979 | missense variant | C/T | snv |
|
0.800 | 1.000 | 0 | 2004 | 2013 | |||||||||
|
1.000 | 0.080 | 19 | 7120707 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 |
|
0.800 | 1.000 | 0 | 1992 | 2013 | |||||||
|
0.807 | 0.080 | 12 | 120994405 | missense variant | G/A | snv | 1.4E-05 |
|
0.800 | 0.917 | 0 | 2000 | 2011 | ||||||||
|
0.882 | 0.200 | 2 | 240591757 | non coding transcript exon variant | G/A | snv | 0.23 |
|
0.770 | 0.857 | 0 | 2006 | 2016 | ||||||||
|
0.882 | 0.080 | 13 | 27920364 | missense variant | G/A;T | snv | 2.9E-03 |
|
0.760 | 0.833 | 0 | 2000 | 2015 | ||||||||
|
1.000 | 0.080 | 2 | 240591746 | non coding transcript exon variant | T/C | snv | 0.12 |
|
0.730 | 1.000 | 0 | 2006 | 2014 | ||||||||
|
0.925 | 0.160 | 2 | 240603286 | intron variant | C/G;T | snv |
|
0.730 | 1.000 | 0 | 2010 | 2013 | |||||||||
|
1.000 | 0.080 | 13 | 27924439 | missense variant | G/A | snv |
|
0.720 | 1.000 | 0 | 1999 | 2002 | |||||||||
|
0.925 | 0.160 | 2 | 240594824 | intron variant | -/CGGGAGGAGGGTGATGATTCTGTCCCAGGAGC | delins |
|
0.720 | 1.000 | 0 | 2010 | 2011 | |||||||||
|
1.000 | 0.080 | 2 | 226796916 | missense variant | G/A;C | snv | 1.5E-05; 5.0E-06 |
|
0.710 | 1.000 | 0 | 2003 | 2003 | ||||||||
|
0.925 | 0.080 | 13 | 27920190 | missense variant | T/C | snv | 1.1E-04 | 1.0E-04 |
|
0.710 | 1.000 | 0 | 2002 | 2002 | |||||||
|
0.925 | 0.080 | 20 | 45314116 | missense variant | C/T | snv | 1.7E-03 | 4.0E-04 |
|
0.710 | 1.000 | 0 | 2018 | 2018 | |||||||
|
0.807 | 0.120 | 15 | 58431740 | intron variant | G/A | snv | 0.33 |
|
0.710 | 1.000 | 0 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | 2 | 156579109 | missense variant | T/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 2 | 226796570 | inframe deletion | ACC/- | delins | 8.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 8 | 31068328 | splice donor variant | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.080 | 7 | 44149772 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.700 | 0 |