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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | 16 | 50710911 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
8 | 0.776 | 0.440 | 6 | 31810169 | missense variant | C/T | snv | 0.32 | 0.25 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 0.925 | 0.080 | 16 | 50711316 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
38 | 0.637 | 0.560 | 19 | 10284116 | missense variant | G/A | snv | 0.11 | 9.3E-02 | 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 | ||||
|
11 | 0.742 | 0.520 | 1 | 206771966 | intron variant | A/C;G;T | snv | 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 | ||||
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
10 | 0.752 | 0.320 | 1 | 67236843 | intron variant | T/G | snv | 4.4E-02 | 5.4E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 0.882 | 0.160 | 10 | 6060049 | intron variant | C/T | snv | 0.11 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
25 | 0.662 | 0.440 | 10 | 6057082 | intron variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 4 | 71756849 | synonymous variant | A/G | snv | 3.8E-02 | 8.6E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
25 | 0.683 | 0.560 | 5 | 35874473 | missense variant | C/T | snv | 0.23 | 0.21 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
3 | 0.882 | 0.200 | 1 | 91861488 | missense variant | G/A | snv | 0.13 | 0.13 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.200 | 1 | 91866932 | intron variant | C/T | snv | 0.65 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.776 | 0.400 | 4 | 122211337 | intron variant | A/G | snv | 0.29 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.827 | 0.200 | 16 | 28528527 | downstream gene variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.790 | 0.360 | 1 | 67189464 | intron variant | G/A | snv | 0.29 | 0.020 | 1.000 | 2 | 2013 | 2017 | ||||
|
19 | 0.695 | 0.440 | 1 | 196740644 | missense variant | G/T | snv | 0.20 | 0.15 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
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 | |||||
|
4 | 0.851 | 0.240 | 12 | 57768956 | missense variant | A/G | snv | 0.38 | 0.33 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
4 | 0.882 | 0.120 | 11 | 128455658 | downstream gene variant | T/C | snv | 0.44 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
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 | |||
|
5 | 0.851 | 0.160 | 11 | 128459064 | 3 prime UTR variant | C/T | snv | 0.11 | 0.010 | 1.000 | 1 | 2015 | 2015 |