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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
59 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 9 | 1984 | 2014 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.080 | 1.000 | 8 | 2004 | 2017 | |||
|
3 | 0.925 | 0.080 | 1 | 22912497 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.070 | 1.000 | 7 | 2012 | 2020 | ||||
|
16 | 0.752 | 0.280 | 1 | 20589208 | missense variant | A/C | snv | 0.28 | 0.25 | 0.050 | 0.800 | 5 | 2010 | 2019 | |||
|
25 | 0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 4 | 2002 | 2013 | |||||
|
50 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.700 | 1.000 | 3 | 2002 | 2013 | ||||
|
26 | 0.667 | 0.400 | 1 | 114713907 | missense variant | T/A;G | snv | 0.700 | 1.000 | 3 | 2002 | 2013 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 1.000 | 2 | 2004 | 2018 | |||||
|
4 | 0.851 | 0.240 | 1 | 20604981 | missense variant | G/A | snv | 2.6E-04 | 1.5E-04 | 0.020 | 1.000 | 2 | 2014 | 2019 | |||
|
33 | 0.637 | 0.640 | 1 | 186681619 | upstream gene variant | T/C | snv | 0.17 | 0.020 | 1.000 | 2 | 2013 | 2015 | ||||
|
1 | 1.000 | 0.080 | 1 | 207495069 | upstream gene variant | G/C | snv | 0.29 | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||
|
8 | 0.827 | 0.160 | 1 | 7798075 | intron variant | G/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.080 | 1 | 20618562 | synonymous variant | C/T | snv | 0.31 | 0.34 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.120 | 1 | 112913924 | missense variant | A/T | snv | 0.59 | 0.66 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
33 | 0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
8 | 0.776 | 0.320 | 1 | 12207208 | 3 prime UTR variant | A/G | snv | 0.48 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 57344632 | intron variant | G/C | snv | 0.52 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 1 | 57337214 | intron variant | G/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
70 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
39 | 0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.080 | 1 | 57336931 | intron variant | C/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 1 | 57337087 | intron variant | T/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.200 | 1 | 230710637 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.080 | 1 | 155187520 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 |