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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.160 | 17 | 42554888 | missense variant | G/A;C;T | snv | 0.56; 9.0E-05; 1.4E-05 |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | ||||||||
|
0.925 | 0.080 | 19 | 50859281 | intron variant | T/G | snv | 4.9E-02 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.200 | 1 | 186681714 | upstream gene variant | T/C | snv | 0.14 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
0.637 | 0.640 | 1 | 186681619 | upstream gene variant | T/C | snv | 0.17 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.120 | 7 | 27927365 | intron variant | C/T | snv | 0.35 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 12 | 68809257 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.662 | 0.640 | 1 | 109689278 | missense variant | A/G | snv | 1.5E-05 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 14 | 64227364 | 3 prime UTR variant | T/C | snv | 0.17 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
0.763 | 0.240 | 17 | 43106457 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 3 | 186846014 | intron variant | C/T | snv | 0.85 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.605 | 0.600 | 6 | 43769749 | upstream gene variant | C/G;T | snv |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||||
|
0.851 | 0.240 | 7 | 28135338 | intron variant | A/G | snv | 0.74 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.240 | 7 | 28144083 | intron variant | T/C | snv | 0.58 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.240 | 7 | 28145472 | intron variant | A/G | snv | 0.78 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
0.807 | 0.240 | 7 | 28146272 | intron variant | T/C | snv | 0.39 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
0.763 | 0.320 | 7 | 28140937 | intron variant | T/C | snv | 0.41 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
0.633 | 0.480 | 12 | 53966448 | intron variant | G/A | snv | 0.57 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.120 | 14 | 64227477 | 3 prime UTR variant | C/T | snv | 0.66 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
0.827 | 0.120 | 17 | 65537671 | synonymous variant | T/C | snv | 0.90 | 0.90 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||
|
0.851 | 0.160 | 5 | 33989413 | missense variant | C/T | snv | 0.70 | 0.74 |
|
0.030 | 0.333 | 3 | 2007 | 2015 | |||||||
|
0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 |
|
0.030 | 0.333 | 3 | 2017 | 2018 | ||||||||
|
0.882 | 0.080 | 19 | 50856335 | missense variant | G/A | snv | 4.0E-05 | 2.3E-04 |
|
0.040 | 0.500 | 4 | 2001 | 2008 | |||||||
|
0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 |
|
0.040 | 0.500 | 4 | 2007 | 2014 | |||||||
|
0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv |
|
0.040 | 0.500 | 4 | 2009 | 2015 | |||||||||
|
0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 |
|
0.020 | 0.500 | 2 | 2003 | 2014 |