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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
23 | 0.701 | 0.360 | 19 | 39241143 | upstream gene variant | A/G | snv | 0.36 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.080 | 3 | 168930251 | downstream gene variant | T/C | snv | 0.63 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
60 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
18 | 0.790 | 0.280 | 12 | 111447491 | missense variant | G/A | snv | 1.5E-04 | 2.4E-04 | 0.700 | 0 | ||||||
|
1 | 19 | 12938723 | missense variant | C/G;T | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 19 | 12938729 | missense variant | C/G;T | snv | 6.3E-05; 5.8E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 5 | 150061765 | missense variant | A/C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
12 | 0.776 | 0.080 | 1 | 36467833 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
102 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
18 | 0.716 | 0.400 | 4 | 1804372 | missense variant | A/G | snv | 0.700 | 1.000 | 3 | 2009 | 2013 | |||||
|
13 | 0.752 | 0.360 | 1 | 109688180 | missense variant | C/T | snv | 4.8E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
73 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
41 | 0.633 | 0.440 | 11 | 534287 | missense variant | GC/AG;AT;TA;TT | mnv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
187 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.800 | 0.970 | 263 | 2005 | 2019 | ||||
|
4 | 0.882 | 0.160 | 9 | 5070831 | intron variant | C/G | snv | 0.25 | 0.810 | 1.000 | 2 | 2009 | 2010 | ||||
|
4 | 0.882 | 0.120 | 9 | 5078360 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
5 | 0.851 | 0.080 | 9 | 5089726 | missense variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.925 | 0.080 | 9 | 5063296 | intron variant | G/T | snv | 0.34 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
9 | 0.790 | 0.200 | 9 | 5074189 | intron variant | T/C | snv | 0.25 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 9 | 5050807 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
7 | 0.807 | 0.200 | 9 | 5070058 | splice region variant | T/C | snv | 3.6E-04 | 1.1E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
9 | 0.790 | 0.240 | 9 | 5072541 | missense variant | G/A;T | snv | 2.8E-05; 6.4E-05 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.925 | 0.080 | 9 | 5072798 | intron variant | T/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2012 | 2012 |