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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
3 | 0.882 | 0.080 | 12 | 91107421 | intron variant | A/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 6 | 152005062 | intron variant | G/A | snv | 0.38 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
16 | 0.732 | 0.280 | 2 | 217041109 | intergenic variant | A/G | snv | 0.44 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.807 | 0.120 | 16 | 52514125 | intron variant | A/G | snv | 0.48 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 5 | 149823222 | intron variant | G/A | snv | 6.3E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.882 | 0.040 | 9 | 132937614 | intron variant | C/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.827 | 0.080 | 12 | 28002147 | intergenic variant | A/G | snv | 8.9E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.080 | 12 | 115398717 | regulatory region variant | A/G | snv | 0.43 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.851 | 0.080 | 10 | 62501439 | intron variant | A/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.080 | 21 | 15148511 | intergenic variant | G/A | snv | 0.32 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
13 | 0.724 | 0.160 | 19 | 17278895 | synonymous variant | G/A | snv | 0.15 | 0.18 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 22 | 35835310 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 0.925 | 5 | 142614908 | intron variant | G/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
21 | 0.695 | 0.360 | 10 | 121592803 | intron variant | A/G | snv | 0.58 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.080 | 3 | 150750021 | intron variant | G/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 0.790 | 0.160 | 15 | 98960571 | 3 prime UTR variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
7 | 0.807 | 0.080 | 2 | 120487546 | intergenic variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.851 | 0.080 | 4 | 174925275 | intron variant | C/A | snv | 0.20 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
13 | 0.732 | 0.320 | 15 | 51236915 | synonymous variant | T/C | snv | 0.43 | 0.40 | 0.020 | 1.000 | 2 | 2013 | 2015 | |||
|
4 | 0.851 | 0.080 | 9 | 108126198 | regulatory region variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2012 | 2015 | |||||
|
1 | 1.000 | 4 | 68537650 | missense variant | G/C;T | snv | 1.5E-05 | 2.5E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.080 | 4 | 68647129 | missense variant | T/G | snv | 0.55 | 0.49 | 0.010 | 1.000 | 1 | 2015 | 2015 |