| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 10 | 13113726 | intron variant | T/C | snv | 0.43 |
|
0.820 | 1.000 | 4 | 2010 | 2018 | ||||||||
|
0.925 | 0.080 | 8 | 104347204 | intron variant | C/T | snv | 0.44 |
|
0.820 | 0.667 | 3 | 2010 | 2019 | ||||||||
|
0.925 | 0.080 | 14 | 92636964 | intron variant | C/T | snv | 0.14 |
|
0.810 | 1.000 | 3 | 2010 | 2015 | ||||||||
|
0.925 | 0.080 | 1 | 109809855 | downstream gene variant | A/G | snv | 0.17 |
|
0.800 | 1.000 | 2 | 2010 | 2011 | ||||||||
|
0.882 | 0.120 | 18 | 62414860 | upstream gene variant | A/G | snv | 0.67 |
|
0.800 | 1.000 | 2 | 2010 | 2011 | ||||||||
|
0.925 | 0.080 | 18 | 62393502 | downstream gene variant | A/G | snv | 0.56 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 7 | 135608380 | intron variant | A/G | snv | 0.76 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.120 | 1 | 109823461 | upstream gene variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.925 | 0.080 | 15 | 74044292 | missense variant | T/C;G | snv | 0.35; 4.0E-06 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | X | 119433739 | intron variant | T/A;C;G | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.080 | 18 | 62311902 | downstream gene variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.925 | 0.080 | 18 | 62084098 | intron variant | A/G | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 1 | 109819060 | intergenic variant | C/A | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 18 | 62087057 | intron variant | C/T | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 10 | 13127374 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.925 | 0.080 | 18 | 62044077 | 3 prime UTR variant | A/G | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.776 | 0.200 | 5 | 179836445 | missense variant | C/T | snv | 9.8E-04 | 1.3E-03 |
|
0.100 | 1.000 | 25 | 2002 | 2018 | |||||||
|
0.752 | 0.200 | 9 | 35065364 | missense variant | G/A;C;T | snv |
|
0.030 | 1.000 | 3 | 2008 | 2012 | |||||||||
|
0.742 | 0.200 | 9 | 35065352 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.030 | 0.667 | 3 | 2012 | 2018 | ||||||||
|
0.776 | 0.200 | 9 | 35065351 | missense variant | C/T | snv | 8.0E-06 |
|
0.020 | 1.000 | 2 | 2009 | 2020 | ||||||||
|
0.851 | 0.080 | 5 | 179836485 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.020 | 1.000 | 2 | 2008 | 2009 | ||||||||
|
0.925 | 0.040 | 5 | 179836480 | missense variant | A/G | snv | 1.6E-05 | 1.4E-05 |
|
0.020 | 1.000 | 2 | 2005 | 2005 | |||||||
|
0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 13 | 42581288 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.200 | 9 | 35064167 | missense variant | G/T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 |