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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 5 | 83293613 | intron variant | A/G | snv | 3.3E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.040 | 1.000 | 4 | 2007 | 2016 | |||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.020 | 1.000 | 2 | 2009 | 2016 | |||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.020 | 0.500 | 2 | 2009 | 2016 | ||||
|
23 | 0.708 | 0.440 | 8 | 31167138 | missense variant | T/C | snv | 0.24 | 0.23 | 0.020 | 1.000 | 2 | 2006 | 2014 | |||
|
8 | 0.776 | 0.240 | 8 | 31141764 | missense variant | G/A;T | snv | 8.0E-06; 0.45 | 0.46 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
10 | 0.776 | 0.360 | 12 | 47906043 | non coding transcript exon variant | T/C | snv | 0.31 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
81 | 0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 0.882 | 0.160 | 1 | 100718269 | upstream gene variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
23 | 0.667 | 0.560 | 18 | 671384 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
4 | 0.851 | 0.120 | 1 | 3707593 | missense variant | C/A | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.050 | 0.800 | 5 | 2004 | 2017 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.050 | 0.800 | 5 | 2004 | 2017 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.050 | 0.800 | 5 | 2004 | 2017 | |||||
|
23 | 0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
32 | 0.641 | 0.440 | 17 | 7674888 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
4 | 0.925 | 0.120 | 14 | 45073835 | 3 prime UTR variant | T/C | snv | 0.11 | 0.020 | 1.000 | 2 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 13 | 108259797 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
6 | 1.000 | 0.120 | 5 | 119393591 | 3 prime UTR variant | C/T | snv | 0.30 | 0.020 | 1.000 | 2 | 2012 | 2013 | ||||
|
27 | 0.662 | 0.440 | 6 | 137874929 | missense variant | T/C;G | snv | 4.0E-06; 5.4E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.060 | 1.000 | 6 | 2007 | 2015 | |||
|
28 | 0.653 | 0.600 | 6 | 31576786 | synonymous variant | G/A | snv | 1.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 1.000 | 0.120 | 14 | 56647667 | 3 prime UTR variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
18 | 0.708 | 0.320 | 4 | 55410167 | intron variant | T/C | snv | 0.42 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
31 | 0.658 | 0.440 | 3 | 52226766 | intron variant | A/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2012 | 2012 |