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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.752 | 0.480 | 6 | 43777358 | non coding transcript exon variant | C/A | snv | 0.31 | 0.020 | < 0.001 | 2 | 2010 | 2016 | ||||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.020 | < 0.001 | 2 | 2013 | 2016 | |||||
|
1 | 1.000 | 0.040 | 7 | 33199222 | intron variant | A/G | snv | 0.19 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | X | 47624401 | synonymous variant | G/A | snv | 0.22 | 0.23 | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||
|
42 | 0.611 | 0.600 | 11 | 67586108 | missense variant | C/T | snv | 5.9E-02 | 5.5E-02 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.120 | 11 | 57606859 | intron variant | T/C | snv | 0.21 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
28 | 0.683 | 0.440 | 1 | 159713648 | splice region variant | C/A;G;T | snv | 4.4E-05; 5.1E-02; 4.0E-06 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
46 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.160 | 15 | 88907356 | missense variant | G/T | snv | 0.62 | 0.67 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.040 | 11 | 57589832 | intergenic variant | G/A | snv | 0.81 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 3 | 46266981 | downstream gene variant | T/A;G | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
9 | 0.827 | 0.200 | 1 | 159709846 | upstream gene variant | A/C;G;T | snv | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||
|
64 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.200 | 4 | 55120071 | intron variant | T/C | snv | 0.12 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
131 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.040 | 16 | 4508052 | missense variant | G/A | snv | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.160 | 4 | 55100634 | intron variant | C/T | snv | 0.59 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.040 | 0.250 | 4 | 2005 | 2009 | ||||
|
8 | 0.776 | 0.320 | 6 | 31947158 | synonymous variant | A/G | snv | 0.82 | 0.85 | 0.020 | 0.500 | 2 | 2009 | 2019 | |||
|
2 | 0.925 | 0.160 | 10 | 122454735 | missense variant | G/A | snv | 0.11 | 9.2E-02 | 0.020 | 0.500 | 2 | 2012 | 2014 | |||
|
5 | 0.851 | 0.160 | 6 | 31946402 | missense variant | C/G;T | snv | 4.1E-06; 0.12 | 0.020 | 0.500 | 2 | 2014 | 2019 | ||||
|
26 | 0.667 | 0.680 | 4 | 55126199 | upstream gene variant | A/G | snv | 0.53 | 0.020 | 0.500 | 2 | 2010 | 2013 | ||||
|
4 | 0.882 | 0.160 | 19 | 6718523 | intron variant | T/C | snv | 0.25 | 0.020 | 0.500 | 2 | 2009 | 2015 | ||||
|
3 | 0.882 | 0.040 | 4 | 109717654 | synonymous variant | C/T | snv | 0.37 | 0.31 | 0.810 | 0.500 | 2 | 2010 | 2019 | |||
|
48 | 0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 | 0.020 | 0.500 | 2 | 2017 | 2019 |