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 | 0.040 | 11 | 100140279 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.925 | 0.080 | 7 | 100717894 | upstream gene variant | A/G | snv | 0.84 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 7 | 100825743 | intron variant | T/A;C;G | snv | 0.29 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 7 | 100992117 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
12 | 0.742 | 0.280 | 12 | 10118488 | stop gained | A/C;G | snv | 6.2E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 3 | 101304904 | intron variant | A/G | snv | 0.40 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.827 | 0.120 | 4 | 101818823 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 1.000 | 0.040 | 4 | 101944147 | intron variant | G/A | snv | 4.1E-02 | 0.800 | 1.000 | 2 | 2012 | 2017 | ||||
|
2 | 1.000 | 0.040 | 4 | 102005766 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.827 | 0.120 | 2 | 102030838 | downstream gene variant | G/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 2 | 102046427 | intron variant | T/G | snv | 0.62 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.827 | 0.120 | 2 | 102154822 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
34 | 0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 | 0.030 | 1.000 | 3 | 2016 | 2019 | ||||
|
3 | 1.000 | 0.040 | 2 | 102322576 | intron variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.200 | 2 | 102355405 | intron variant | G/T | snv | 0.77 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.827 | 0.120 | 2 | 102358876 | intron variant | T/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.280 | 2 | 102437989 | intron variant | G/A | snv | 0.78 | 0.810 | 1.000 | 2 | 2010 | 2015 | ||||
|
2 | 1.000 | 0.040 | 2 | 102446909 | intron variant | G/A | snv | 0.78 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
20 | 0.701 | 0.480 | 2 | 102454108 | downstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
14 | 0.724 | 0.240 | 2 | 102464132 | intergenic variant | T/C | snv | 0.78 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
56 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
9 | 0.776 | 0.280 | 4 | 102513096 | intron variant | T/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.120 | 4 | 102527884 | intron variant | T/C | snv | 0.73 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 5 | 102611094 | intron variant | A/G | snv | 5.1E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
38 | 0.637 | 0.560 | 19 | 10284116 | missense variant | G/A | snv | 0.11 | 9.3E-02 | 0.010 | < 0.001 | 1 | 2015 | 2015 |