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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
21 | 0.708 | 0.280 | 6 | 151627231 | intergenic variant | G/A | snv | 0.41 | 0.020 | 1.000 | 2 | 2011 | 2014 | ||||
|
5 | 0.827 | 0.080 | 12 | 28002147 | intergenic variant | A/G | snv | 8.9E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 3 | 172550013 | regulatory region variant | T/C | snv | 0.17 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 2 | 218841159 | upstream gene variant | C/T | snv | 1.3E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.080 | 3 | 46825376 | downstream gene variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
54 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.776 | 0.160 | 19 | 17283315 | missense variant | T/G | snv | 0.48 | 0.50 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
13 | 0.724 | 0.160 | 19 | 17278895 | synonymous variant | G/A | snv | 0.15 | 0.18 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
25 | 0.662 | 0.440 | 16 | 52552429 | non coding transcript exon variant | A/G | snv | 0.63 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
22 | 0.677 | 0.320 | 9 | 22062135 | intron variant | G/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
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 | 0.120 | 15 | 51242798 | missense variant | A/G | snv | 3.4E-03 | 9.1E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 0.925 | 0.040 | 20 | 54162422 | intron variant | T/C | snv | 0.22 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.080 | 5 | 158817075 | intron variant | C/T | snv | 0.44 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.790 | 0.280 | 6 | 151949537 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 6 | 152005062 | intron variant | G/A | snv | 0.38 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
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 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
4 | 0.851 | 0.080 | 5 | 45285616 | intron variant | A/C | snv | 0.34 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 5 | 133071366 | intron variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.790 | 0.160 | 15 | 98960571 | 3 prime UTR variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.882 | 0.080 | 8 | 116197325 | intron variant | A/G | snv | 0.45 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 2 | 217029040 | intergenic variant | G/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
16 | 0.732 | 0.280 | 2 | 217041109 | intergenic variant | A/G | snv | 0.44 | 0.010 | 1.000 | 1 | 2009 | 2009 |