| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.080 | X | 67723710 | missense variant | A/G | snv |
|
0.100 | 1.000 | 14 | 2002 | 2015 | |||||||||
|
0.790 | 0.080 | 1 | 182582202 | missense variant | A/C | snv | 0.54 | 0.49 |
|
0.080 | 0.875 | 8 | 2004 | 2019 | |||||||
|
0.925 | 0.080 | 8 | 127094635 | intron variant | A/C | snv | 0.17 |
|
0.780 | 1.000 | 8 | 2008 | 2017 | ||||||||
|
0.882 | 0.080 | 4 | 68670366 | missense variant | A/C | snv | 0.51 | 0.53 |
|
0.070 | 0.857 | 7 | 2000 | 2017 | |||||||
|
0.882 | 0.080 | 6 | 116888889 | intron variant | T/C | snv | 0.28 |
|
0.760 | 0.900 | 6 | 2010 | 2019 | ||||||||
|
0.925 | 0.080 | 19 | 50858501 | missense variant | T/C | snv | 5.5E-02 | 4.9E-02 |
|
0.750 | 0.714 | 5 | 2011 | 2015 | |||||||
|
0.925 | 0.080 | 19 | 50854757 | upstream gene variant | G/A | snv | 0.49 |
|
0.050 | 0.800 | 5 | 2006 | 2018 | ||||||||
|
0.882 | 0.080 | 5 | 1895715 | intron variant | C/T | snv | 0.43 |
|
0.740 | 1.000 | 4 | 2010 | 2019 | ||||||||
|
0.882 | 0.080 | 19 | 50856335 | missense variant | G/A | snv | 4.0E-05 | 2.3E-04 |
|
0.040 | 0.500 | 4 | 2001 | 2008 | |||||||
|
0.925 | 0.080 | 19 | 50878521 | missense variant | C/T | snv | 0.24 | 0.30 |
|
0.040 | 1.000 | 4 | 2005 | 2015 | |||||||
|
0.925 | 0.080 | 17 | 37714971 | intron variant | A/G | snv | 0.85 |
|
0.730 | 1.000 | 3 | 2011 | 2019 | ||||||||
|
0.925 | 0.080 | 8 | 127098007 | intron variant | A/G | snv | 0.13 |
|
0.030 | 1.000 | 3 | 2012 | 2016 | ||||||||
|
0.925 | 0.080 | 2 | 38075651 | non coding transcript exon variant | C/T | snv | 0.35 |
|
0.030 | 1.000 | 3 | 2008 | 2019 | ||||||||
|
0.925 | 0.080 | 8 | 127323428 | intron variant | G/A | snv | 0.36 |
|
0.030 | 0.667 | 3 | 2009 | 2017 | ||||||||
|
0.882 | 0.080 | 8 | 16168568 | missense variant | C/A;G;T | snv | 1.6E-03; 4.0E-06 |
|
0.030 | 1.000 | 3 | 2003 | 2006 | ||||||||
|
0.925 | 0.080 | 8 | 42369855 | missense variant | A/G | snv | 4.4E-06 |
|
0.030 | 1.000 | 3 | 2005 | 2017 | ||||||||
|
0.882 | 0.080 | 8 | 142682129 | synonymous variant | C/A | snv | 0.45 | 0.44 |
|
0.020 | 1.000 | 2 | 2011 | 2017 | |||||||
|
0.851 | 0.080 | X | 67723707 | missense variant | T/C | snv |
|
0.020 | 1.000 | 2 | 2013 | 2015 | |||||||||
|
0.925 | 0.080 | 19 | 50860142 | 3 prime UTR variant | C/T | snv | 0.75 | 0.74 |
|
0.020 | 1.000 | 2 | 2017 | 2018 | |||||||
|
0.925 | 0.080 | 6 | 42960723 | upstream gene variant | C/G;T | snv | 0.39 |
|
0.020 | 1.000 | 2 | 2014 | 2016 | ||||||||
|
0.925 | 0.080 | 19 | 41479679 | non coding transcript exon variant | G/A | snv | 0.42 |
|
0.720 | 0.667 | 2 | 2013 | 2018 | ||||||||
|
0.925 | 0.080 | 8 | 23682904 | 5 prime UTR variant | C/T | snv | 0.72 | 0.72 |
|
0.020 | 1.000 | 2 | 2010 | 2014 | |||||||
|
0.851 | 0.080 | 17 | 12992957 | missense variant | C/A;T | snv | 4.0E-06; 5.3E-04 |
|
0.020 | 1.000 | 2 | 2005 | 2019 | ||||||||
|
0.925 | 0.080 | 8 | 127519444 | intergenic variant | A/G;T | snv |
|
0.720 | 1.000 | 2 | 2009 | 2015 | |||||||||
|
0.882 | 0.080 | 11 | 69167951 | intron variant | G/A | snv | 0.22 |
|
0.020 | 1.000 | 2 | 2009 | 2015 |