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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.763 | 0.280 | 10 | 46046326 | 5 prime UTR variant | A/G | snv | 0.54 | 0.800 | 1.000 | 37 | 2008 | 2020 | ||||
|
29 | 0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv | 0.800 | 0.914 | 35 | 2007 | 2019 | |||||
|
24 | 0.701 | 0.240 | 17 | 48728343 | missense variant | C/T | snv | 1.8E-03 | 1.6E-03 | 0.800 | 0.938 | 32 | 2012 | 2019 | |||
|
62 | 0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 | 0.800 | 0.871 | 31 | 2007 | 2019 | ||||
|
21 | 0.689 | 0.440 | 2 | 31580636 | missense variant | G/A;C;T | snv | 0.66; 4.9E-06 | 0.100 | 0.690 | 29 | 1999 | 2015 | ||||
|
32 | 0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 | 0.100 | 0.708 | 24 | 2002 | 2019 | |||
|
17 | 0.724 | 0.480 | 8 | 127112671 | intron variant | C/A | snv | 0.16 | 0.800 | 0.955 | 22 | 2007 | 2019 | ||||
|
14 | 0.790 | 0.280 | 17 | 37738049 | intron variant | A/G | snv | 0.52 | 0.800 | 1.000 | 21 | 2007 | 2019 | ||||
|
16 | 0.716 | 0.320 | 2 | 31580756 | missense variant | C/T | snv | 1.8E-02 | 2.1E-02 | 0.100 | 0.556 | 18 | 1999 | 2017 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.750 | 16 | 2004 | 2016 | |||
|
7 | 0.827 | 0.160 | 19 | 50861367 | upstream gene variant | A/C;G | snv | 0.800 | 0.938 | 16 | 2008 | 2019 | |||||
|
10 | 0.827 | 0.080 | X | 67723710 | missense variant | A/G | snv | 0.100 | 1.000 | 14 | 2002 | 2015 | |||||
|
131 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 0.100 | 0.857 | 14 | 2007 | 2016 | |||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.100 | 0.692 | 13 | 2004 | 2014 | |||
|
4 | 0.882 | 0.160 | 17 | 71112612 | intron variant | G/T | snv | 0.56 | 0.770 | 0.923 | 13 | 2007 | 2018 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 0.727 | 11 | 2004 | 2016 | |||||
|
58 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 0.100 | 0.900 | 10 | 2000 | 2018 | ||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.100 | 0.900 | 10 | 2004 | 2018 | |||
|
4 | 0.882 | 0.080 | 6 | 116888889 | intron variant | T/C | snv | 0.28 | 0.760 | 0.900 | 10 | 2010 | 2019 | ||||
|
3 | 0.925 | 0.080 | 8 | 127094635 | intron variant | A/C | snv | 0.17 | 0.780 | 1.000 | 10 | 2008 | 2017 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.090 | 0.778 | 9 | 2006 | 2014 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.090 | 0.667 | 9 | 2005 | 2016 | |||
|
8 | 0.776 | 0.160 | 17 | 12996585 | missense variant | C/T | snv | 3.5E-02 | 2.9E-02 | 0.090 | 0.889 | 9 | 2001 | 2010 | |||
|
5 | 0.882 | 0.080 | 5 | 1895715 | intron variant | C/T | snv | 0.43 | 0.740 | 1.000 | 8 | 2010 | 2019 | ||||
|
58 | 0.597 | 0.560 | 5 | 177093242 | missense variant | G/A | snv | 0.33 | 0.26 | 0.080 | 0.875 | 8 | 2005 | 2017 |