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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
38 | 0.637 | 0.560 | 19 | 10284116 | missense variant | G/A | snv | 0.11 | 9.3E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.040 | 1 | 117169289 | intron variant | G/A | snv | 5.3E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.776 | 0.400 | 4 | 122211337 | intron variant | A/G | snv | 0.29 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
14 | 0.742 | 0.440 | 18 | 12809341 | intron variant | A/G | snv | 0.12 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.120 | 11 | 128455658 | downstream gene variant | T/C | snv | 0.44 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.851 | 0.160 | 11 | 128459064 | 3 prime UTR variant | C/T | snv | 0.11 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
19 | 0.695 | 0.440 | 1 | 196740644 | missense variant | G/T | snv | 0.20 | 0.15 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
11 | 0.742 | 0.520 | 1 | 206771966 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
5 | 0.827 | 0.160 | 1 | 206772036 | intron variant | G/A | snv | 0.39 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 1 | 206775294 | intron variant | C/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.851 | 0.280 | 1 | 211329427 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.882 | 0.280 | 1 | 211379722 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 1 | 22003194 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
9 | 0.790 | 0.200 | 2 | 241853198 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
3 | 0.882 | 0.160 | 2 | 241854911 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
3 | 0.882 | 0.200 | 2 | 241855866 | intron variant | T/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
6 | 0.827 | 0.200 | 16 | 28528527 | downstream gene variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.776 | 0.440 | 6 | 31810169 | missense variant | C/T | snv | 0.32 | 0.25 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
8 | 0.776 | 0.320 | 6 | 31947158 | synonymous variant | A/G | snv | 0.82 | 0.85 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
25 | 0.683 | 0.560 | 5 | 35874473 | missense variant | C/T | snv | 0.23 | 0.21 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
73 | 0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 | 0.020 | 1.000 | 2 | 2018 | 2019 | |||
|
4 | 0.882 | 0.080 | 4 | 38760093 | upstream gene variant | G/A | snv | 0.36 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 7 | 50669861 | missense variant | C/T | snv | 4.6E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 |