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 | 1 | 43338136 | missense variant | G/T | snv | 3.5E-03 | 1.4E-02 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
187 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.100 | 0.974 | 269 | 2005 | 2020 | ||||
|
13 | 0.742 | 0.320 | 12 | 112450398 | missense variant | C/T | snv | 0.040 | 0.750 | 4 | 2005 | 2015 | |||||
|
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 | |||
|
25 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 0.100 | 1.000 | 10 | 2008 | 2018 | ||||
|
7 | 0.790 | 0.120 | 1 | 43349308 | missense variant | G/A | snv | 0.710 | 1.000 | 4 | 2008 | 2013 | |||||
|
8 | 0.790 | 0.120 | 1 | 43349337 | missense variant | TG/AA | mnv | 0.020 | 1.000 | 2 | 2008 | 2009 | |||||
|
4 | 0.882 | 0.160 | 9 | 5070831 | intron variant | C/G | snv | 0.25 | 0.040 | 1.000 | 4 | 2009 | 2014 | ||||
|
4 | 1.000 | 0.080 | 4 | 54727443 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2009 | 2014 | |||||
|
3 | 1.000 | 0.080 | 3 | 196071416 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.080 | 17 | 78358688 | missense variant | G/C;T | snv | 4.1E-06; 2.1E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
3 | 0.882 | 0.080 | 19 | 17837200 | missense variant | G/A | snv | 0.700 | 1.000 | 4 | 2010 | 2014 | |||||
|
50 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.040 | 1.000 | 4 | 2011 | 2017 | ||||
|
1 | 1.000 | 0.080 | 1 | 43349307 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.851 | 0.080 | 9 | 5089726 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.925 | 0.080 | 9 | 5070026 | missense variant | AA/TT | mnv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.851 | 0.080 | 3 | 169143780 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
9 | 0.790 | 0.200 | 9 | 5074189 | intron variant | T/C | snv | 0.25 | 0.050 | 1.000 | 5 | 2012 | 2017 | ||||
|
4 | 0.882 | 0.120 | 9 | 5078360 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
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 | 0.120 | 22 | 40409754 | missense variant | G/A;C;T | snv | 3.3E-05; 8.2E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.851 | 0.080 | 9 | 5065750 | intron variant | G/C | snv | 0.23 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
12 | 0.776 | 0.080 | 1 | 36467833 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 |