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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.020 | 0.500 | 2 | 2007 | 2011 | ||||
|
56 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 0.020 | 1.000 | 2 | 2013 | 2018 | |||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.020 | 1.000 | 2 | 2011 | 2013 | |||
|
1 | 1 | 156480948 | missense variant | G/A;C | snv | 0.62 | 0.800 | 1.000 | 2 | 2012 | 2016 | ||||||
|
6 | 0.827 | 0.200 | 11 | 27702228 | intron variant | T/A | snv | 0.48 | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||
|
3 | 0.925 | 0.040 | 5 | 153491449 | intron variant | G/A | snv | 0.17 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.020 | 1.000 | 2 | 2010 | 2017 | ||||
|
52 | 0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 | 0.020 | 0.500 | 2 | 2005 | 2014 | |||
|
9 | 0.807 | 0.080 | 1 | 31626924 | missense variant | A/G | snv | 0.56 | 0.50 | 0.020 | 1.000 | 2 | 2018 | 2019 | |||
|
13 | 0.776 | 0.360 | 1 | 7853370 | missense variant | G/A | snv | 0.51 | 0.52 | 0.020 | 1.000 | 2 | 2016 | 2017 | |||
|
1 | 10 | 33179196 | 3 prime UTR variant | A/G | snv | 0.21 | 0.710 | 1.000 | 2 | 2016 | 2018 | ||||||
|
15 | 0.732 | 0.440 | 1 | 7849677 | missense variant | C/T | snv | 8.7E-02 | 5.6E-02 | 0.020 | 1.000 | 2 | 2016 | 2017 | |||
|
1 | 1 | 156486509 | intron variant | C/T | snv | 0.54 | 0.800 | 1.000 | 2 | 2012 | 2013 | ||||||
|
4 | 0.925 | 0.080 | X | 152652814 | missense variant | A/C;T | snv | 0.020 | 1.000 | 2 | 2013 | 2018 | |||||
|
3 | 0.925 | 0.160 | 7 | 73703866 | 3 prime UTR variant | T/C | snv | 0.42 | 0.32 | 0.020 | 1.000 | 2 | 2009 | 2012 | |||
|
2 | 11 | 10652497 | intron variant | C/G | snv | 0.78 | 0.700 | 1.000 | 2 | 2016 | 2016 | ||||||
|
2 | 1.000 | 0.040 | 5 | 153488877 | upstream gene variant | T/C | snv | 0.62 | 0.020 | < 0.001 | 2 | 2015 | 2018 | ||||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.020 | 1.000 | 2 | 2010 | 2014 | |||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.020 | 0.500 | 2 | 2001 | 2004 | |||
|
42 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 0.020 | 0.500 | 2 | 2004 | 2007 | |||||
|
3 | 0.925 | 0.040 | 3 | 30438593 | intergenic variant | C/G;T | snv | 0.810 | 0.500 | 2 | 2013 | 2014 | |||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.020 | 1.000 | 2 | 2009 | 2015 | |||
|
1 | 18 | 9590436 | intron variant | G/C | snv | 0.36 | 0.020 | 0.500 | 2 | 2013 | 2015 | ||||||
|
4 | 0.925 | 0.120 | 7 | 151009827 | intron variant | G/A;C | snv | 0.020 | 1.000 | 2 | 2011 | 2012 | |||||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.020 | 0.500 | 2 | 2008 | 2015 |