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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.790 | 0.200 | 9 | 5074189 | intron variant | T/C | snv | 0.25 | 0.050 | 1.000 | 5 | 2012 | 2017 | ||||
|
4 | 0.882 | 0.160 | 9 | 5070831 | intron variant | C/G | snv | 0.25 | 0.040 | 1.000 | 4 | 2009 | 2014 | ||||
|
5 | 0.851 | 0.080 | 9 | 5065750 | intron variant | G/C | snv | 0.23 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
3 | 0.925 | 0.080 | 9 | 5063296 | intron variant | G/T | snv | 0.34 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 9 | 5076691 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.925 | 0.080 | 9 | 5072798 | intron variant | T/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 3 | 24749884 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 9 | 5005034 | intron variant | A/T | snv | 0.26 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
16 | 0.742 | 0.360 | 10 | 87960957 | stop gained | A/G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
187 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.100 | 0.974 | 269 | 2005 | 2020 | ||||
|
25 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 0.100 | 1.000 | 10 | 2008 | 2018 | ||||
|
12 | 0.790 | 0.200 | 2 | 8731667 | missense variant | C/A | snv | 2.4E-04 | 2.6E-04 | 0.070 | 1.000 | 7 | 2006 | 2019 | |||
|
50 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.040 | 1.000 | 4 | 2011 | 2017 | ||||
|
3 | 0.882 | 0.080 | 19 | 17837200 | missense variant | G/A | snv | 0.700 | 1.000 | 4 | 2010 | 2014 | |||||
|
7 | 0.790 | 0.120 | 1 | 43349308 | missense variant | G/A | snv | 0.710 | 1.000 | 4 | 2008 | 2013 | |||||
|
13 | 0.742 | 0.320 | 12 | 112450398 | missense variant | C/T | snv | 0.040 | 0.750 | 4 | 2005 | 2015 | |||||
|
4 | 1.000 | 0.080 | 4 | 54727443 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2009 | 2014 | |||||
|
8 | 0.790 | 0.120 | 1 | 43349337 | missense variant | TG/AA | mnv | 0.020 | 1.000 | 2 | 2008 | 2009 | |||||
|
73 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
9 | 0.827 | 0.320 | 12 | 25245345 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.882 | 0.120 | 9 | 5078360 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 1 | 43349307 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
6 | 0.851 | 0.240 | 15 | 66436750 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.851 | 0.080 | 9 | 5089726 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.080 | 9 | 104830968 | missense variant | C/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 |