| 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 | 21 | 31665169 | intron variant | A/T | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 2 | 197820885 | intron variant | G/A | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 |
|
0.020 | 1.000 | 2 | 2010 | 2018 | ||||||||
|
0.827 | 0.120 | 17 | 65537671 | synonymous variant | T/C | snv | 0.90 | 0.90 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.080 | 17 | 71139490 | intron variant | G/A | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 17 | 71119005 | intron variant | T/G | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.080 | 3 | 37027478 | intron variant | G/A | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | X | 149456568 | intergenic variant | T/C | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 8 | 127042277 | intron variant | A/G | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.080 | X | 67545492 | missense variant | C/A;T | snv | 6.6E-06 |
|
0.020 | 1.000 | 2 | 2005 | 2008 | ||||||||
|
0.882 | 0.200 | X | 67546162 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.925 | 0.080 | 11 | 35204608 | missense variant | A/G;T | snv | 0.74 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 14 | 92931686 | missense variant | G/C | snv | 0.13 | 0.12 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.080 | 8 | 127522409 | intergenic variant | G/A | snv | 0.94 |
|
0.700 | 1.000 | 2 | 2008 | 2008 | ||||||||
|
0.683 | 0.480 | 1 | 11802157 | intron variant | T/C | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.200 | 22 | 40056115 | intron variant | T/C | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 22 | 25226475 | intron variant | C/T | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 13 | 73154002 | intergenic variant | G/T | snv | 0.46 |
|
0.710 | 1.000 | 2 | 2010 | 2012 | ||||||||
|
0.590 | 0.800 | 6 | 159692720 | missense variant | G/A;T | snv | 8.0E-06 |
|
0.020 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
0.925 | 0.080 | 12 | 117331056 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.080 | 6 | 26056822 | upstream gene variant | C/T | snv | 9.8E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 6 | 130033710 | intron variant | T/C | snv | 0.65 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.827 | 0.160 | 6 | 130062912 | intron variant | C/T | snv | 0.53 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.120 | 8 | 47936435 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 |