Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.827 | 0.080 | X | 67723710 | missense variant | A/G | snv | 0.800 | 1.000 | 14 | 2002 | 2015 | |||||
|
10 | 0.790 | 0.080 | 1 | 182582202 | missense variant | A/C | snv | 0.54 | 0.49 | 0.080 | 0.875 | 8 | 2004 | 2019 | |||
|
3 | 0.925 | 0.080 | 8 | 127094635 | intron variant | A/C | snv | 0.17 | 0.780 | 1.000 | 8 | 2008 | 2017 | ||||
|
4 | 0.882 | 0.080 | 4 | 68670366 | missense variant | A/C | snv | 0.51 | 0.53 | 0.070 | 0.857 | 7 | 2000 | 2017 | |||
|
4 | 0.882 | 0.080 | 6 | 116888889 | intron variant | T/C | snv | 0.28 | 0.760 | 0.857 | 6 | 2010 | 2016 | ||||
|
4 | 0.925 | 0.080 | 19 | 50858501 | missense variant | T/C | snv | 5.5E-02 | 4.9E-02 | 0.750 | 0.667 | 5 | 2011 | 2015 | |||
|
4 | 0.925 | 0.080 | 19 | 50854757 | upstream gene variant | G/A | snv | 0.49 | 0.050 | 0.800 | 5 | 2006 | 2018 | ||||
|
5 | 0.882 | 0.080 | 5 | 1895715 | intron variant | C/T | snv | 0.43 | 0.740 | 1.000 | 4 | 2010 | 2013 | ||||
|
4 | 0.882 | 0.080 | 19 | 50856335 | missense variant | G/A | snv | 4.0E-05 | 2.3E-04 | 0.040 | 0.750 | 4 | 2000 | 2008 | |||
|
4 | 0.925 | 0.080 | 19 | 50878521 | missense variant | C/T | snv | 0.24 | 0.30 | 0.040 | 1.000 | 4 | 2005 | 2015 | |||
|
2 | 0.925 | 0.080 | 17 | 37714971 | intron variant | A/G | snv | 0.85 | 0.030 | 1.000 | 3 | 2011 | 2018 | ||||
|
2 | 0.925 | 0.080 | 17 | 7674863 | missense variant | G/A;T | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2013 | 2016 | ||||
|
3 | 0.925 | 0.080 | 8 | 127098007 | intron variant | A/G | snv | 0.13 | 0.730 | 1.000 | 3 | 2008 | 2016 | ||||
|
2 | 0.925 | 0.080 | 2 | 38075651 | non coding transcript exon variant | C/T | snv | 0.35 | 0.030 | 1.000 | 3 | 2008 | 2019 | ||||
|
2 | 0.925 | 0.080 | 8 | 127323428 | intron variant | G/A | snv | 0.36 | 0.730 | 0.750 | 3 | 2008 | 2017 | ||||
|
3 | 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 | ||||
|
4 | 0.925 | 0.080 | 8 | 42369855 | missense variant | A/G | snv | 4.4E-06 | 0.030 | 1.000 | 3 | 2005 | 2017 | ||||
|
3 | 0.882 | 0.080 | 8 | 142682129 | synonymous variant | C/A | snv | 0.45 | 0.44 | 0.020 | 1.000 | 2 | 2011 | 2017 | |||
|
8 | 0.851 | 0.080 | X | 67723707 | missense variant | T/C | snv | 0.020 | 1.000 | 2 | 2013 | 2015 | |||||
|
2 | 0.925 | 0.080 | 19 | 50860142 | 3 prime UTR variant | C/T | snv | 0.75 | 0.74 | 0.720 | 1.000 | 2 | 2008 | 2018 | |||
|
2 | 0.925 | 0.080 | 6 | 42960723 | upstream gene variant | C/G;T | snv | 0.39 | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||
|
3 | 0.925 | 0.080 | 19 | 41479679 | non coding transcript exon variant | G/A | snv | 0.42 | 0.720 | 0.500 | 2 | 2013 | 2018 | ||||
|
2 | 0.925 | 0.080 | 8 | 23682904 | 5 prime UTR variant | C/T | snv | 0.72 | 0.72 | 0.020 | 1.000 | 2 | 2010 | 2014 | |||
|
3 | 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 | ||||
|
2 | 0.925 | 0.080 | 8 | 127519444 | intergenic variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2009 | 2012 |