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 | 0.080 | 10 | 121588875 | intron variant | T/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.080 | 10 | 121589148 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.080 | 10 | 121589388 | intron variant | T/C | snv | 0.54 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.080 | 10 | 121579461 | intron variant | A/G;T | snv | 0.34 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.080 | 10 | 121496653 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.080 | 10 | 121580918 | intron variant | C/- | delins | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 10 | 121515162 | synonymous variant | A/G;T | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 10 | 121593750 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.925 | 0.080 | 10 | 121565562 | missense variant | C/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 10 | 121574483 | intron variant | C/T | snv | 0.40 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
4 | 0.851 | 0.080 | 10 | 121573063 | intron variant | C/G;T | snv | 0.720 | 1.000 | 2 | 2009 | 2012 | |||||
|
3 | 0.882 | 0.120 | 10 | 121574943 | intron variant | G/A | snv | 0.40 | 0.710 | 1.000 | 2 | 2007 | 2012 | ||||
|
4 | 0.882 | 0.120 | 10 | 121586602 | intron variant | G/A | snv | 0.54 | 0.710 | 1.000 | 2 | 2007 | 2010 | ||||
|
19 | 0.695 | 0.280 | 10 | 121575416 | intron variant | G/A;T | snv | 0.34 | 0.020 | 1.000 | 2 | 2012 | 2012 | ||||
|
8 | 0.776 | 0.280 | 10 | 121577821 | intron variant | A/G | snv | 0.53 | 0.740 | 1.000 | 7 | 2009 | 2017 | ||||
|
4 | 0.851 | 0.160 | 10 | 121591810 | intron variant | T/C | snv | 0.56 | 0.770 | 1.000 | 9 | 2007 | 2017 | ||||
|
2 | 0.925 | 0.080 | 10 | 121580797 | intron variant | C/A;T | snv | 0.790 | 0.909 | 11 | 2007 | 2018 | |||||
|
17 | 0.716 | 0.320 | 10 | 121586676 | intron variant | A/G;T | snv | 0.800 | 1.000 | 24 | 2007 | 2018 | |||||
|
21 | 0.695 | 0.360 | 10 | 121592803 | intron variant | A/G | snv | 0.58 | 0.800 | 0.971 | 35 | 2007 | 2019 |