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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.080 | 5 | 139383837 | intron variant | T/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
8 | 0.790 | 0.200 | 5 | 150848436 | synonymous variant | C/T | snv | 0.17 | 0.21 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
4 | 0.882 | 0.080 | 9 | 114785492 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.851 | 0.320 | 16 | 3243403 | missense variant | T/A;C | snv | 8.0E-06; 5.2E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.120 | 16 | 50716899 | missense variant | A/G | snv | 1.2E-03 | 7.5E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 1.000 | 0.080 | 5 | 35877812 | 3 prime UTR variant | A/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.807 | 0.120 | 7 | 22720869 | intron variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.240 | 6 | 31411200 | missense variant | G/A | snv | 0.34 | 0.35 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
20 | 0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
40 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
3 | 0.925 | 0.080 | X | 124365786 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
6 | 0.827 | 0.160 | 10 | 99531836 | upstream gene variant | T/C | snv | 0.55 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.851 | 0.240 | 1 | 157700967 | upstream gene variant | C/T | snv | 0.28 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
26 | 0.667 | 0.400 | 20 | 3213196 | missense variant | C/A;G | snv | 7.5E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
9 | 0.776 | 0.280 | 6 | 18130687 | missense variant | T/C;G | snv | 3.7E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
47 | 0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
52 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 1.000 | 0.040 | 1 | 67200769 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.040 | 5 | 132397705 | downstream gene variant | G/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
102 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
4 | 0.882 | 0.120 | 4 | 153700794 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
31 | 0.645 | 0.520 | 4 | 153704936 | missense variant | C/T | snv | 8.8E-05 | 9.8E-05 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
9 | 0.790 | 0.200 | 9 | 5074189 | intron variant | T/C | snv | 0.25 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 16 | 50710637 | synonymous variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 |