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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.807 | 0.120 | 1 | 28812463 | missense variant | G/C;T | snv | 0.91 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
83 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 0.900 | 1.000 | 19 | 2004 | 2019 | ||||
|
4 | 1.000 | 0.080 | 4 | 99313896 | synonymous variant | A/G;T | snv | 0.82 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 4 | 99124423 | stop gained | T/A;C | snv | 0.78 | 0.020 | 1.000 | 2 | 2011 | 2016 | ||||
|
5 | 0.851 | 0.120 | 4 | 99127263 | missense variant | T/C | snv | 0.76 | 0.75 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
3 | 1.000 | 0.080 | 21 | 37625399 | synonymous variant | G/A | snv | 0.71 | 0.72 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
21 | 0.689 | 0.440 | 2 | 31580636 | missense variant | G/A;C;T | snv | 0.66; 4.9E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 17 | 45833089 | intron variant | G/A | snv | 0.63 | 0.56 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.020 | 1.000 | 2 | 2006 | 2014 | |||
|
9 | 0.763 | 0.160 | X | 43744144 | synonymous variant | T/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
16 | 0.716 | 0.480 | 1 | 23875430 | missense variant | T/C;G | snv | 0.62 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.080 | 21 | 37840718 | intron variant | G/A | snv | 0.59 | 0.58 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
5 | 0.827 | 0.200 | 1 | 28863085 | synonymous variant | C/T | snv | 0.59 | 0.50 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.080 | 5 | 6633666 | synonymous variant | C/G | snv | 0.55 | 0.58 | 0.020 | 1.000 | 2 | 2011 | 2014 | |||
|
10 | 0.776 | 0.280 | 10 | 5094459 | missense variant | C/G | snv | 0.50 | 0.45 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.080 | 20 | 23036445 | missense variant | T/A;C | snv | 2.8E-05; 0.49 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 2 | 75198602 | synonymous variant | A/G | snv | 0.48 | 0.58 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.070 | 1.000 | 7 | 2004 | 2015 | |||
|
5 | 0.827 | 0.240 | 11 | 2169721 | missense variant | C/T | snv | 0.43 | 0.32 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
36 | 0.689 | 0.480 | 11 | 113412737 | synonymous variant | G/A | snv | 0.41 | 0.38 | 0.040 | 1.000 | 4 | 2008 | 2012 | |||
|
3 | 0.882 | 0.120 | 12 | 13865843 | synonymous variant | G/C;T | snv | 0.41; 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.040 | 0.500 | 4 | 2001 | 2013 | |||
|
8 | 0.851 | 0.080 | 4 | 46312576 | synonymous variant | T/C | snv | 0.40 | 0.38 | 0.050 | 1.000 | 5 | 2012 | 2016 | |||
|
2 | 0.925 | 0.080 | 12 | 13563704 | missense variant | G/A;T | snv | 0.40; 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 |