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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
40 | 0.620 | 0.400 | 10 | 94306584 | missense variant | A/G | snv | 0.28 | 0.31 | 0.800 | 1.000 | 18 | 2010 | 2019 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 1.000 | 13 | 2003 | 2019 | |||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.090 | 1.000 | 9 | 2009 | 2019 | |||
|
83 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 0.080 | 1.000 | 8 | 2009 | 2019 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.070 | 1.000 | 7 | 2003 | 2017 | ||||
|
111 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 0.060 | 1.000 | 6 | 2010 | 2019 | |||
|
72 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 0.060 | 1.000 | 6 | 2002 | 2016 | ||||
|
60 | 0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 | 0.060 | 1.000 | 6 | 2013 | 2019 | ||||
|
25 | 0.695 | 0.320 | 17 | 30117165 | 5 prime UTR variant | A/C;T | snv | 0.50; 3.1E-05 | 0.050 | 0.800 | 5 | 2013 | 2019 | ||||
|
10 | 0.807 | 0.280 | 10 | 87966988 | 3 prime UTR variant | T/C | snv | 0.33 | 0.050 | 1.000 | 5 | 2012 | 2020 | ||||
|
13 | 0.752 | 0.160 | 20 | 773867 | intron variant | C/T | snv | 5.9E-02 | 0.040 | 0.750 | 4 | 2015 | 2019 | ||||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.040 | 1.000 | 4 | 2002 | 2012 | ||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.040 | 0.750 | 4 | 2010 | 2019 | |||
|
4 | 0.882 | 0.080 | 4 | 67919056 | missense variant | T/A;C;G | snv | 0.67 | 0.040 | 1.000 | 4 | 2006 | 2013 | ||||
|
56 | 0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 | 0.030 | 0.667 | 3 | 2003 | 2019 | |||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.030 | 0.333 | 3 | 2007 | 2013 | |||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.030 | 1.000 | 3 | 2002 | 2009 | |||
|
5 | 0.851 | 0.080 | 21 | 34985564 | intron variant | A/G;T | snv | 0.75 | 0.720 | 1.000 | 3 | 2012 | 2019 | ||||
|
42 | 0.630 | 0.440 | 1 | 225838705 | missense variant | A/G;T | snv | 0.19; 2.8E-05 | 0.030 | 1.000 | 3 | 2006 | 2019 | ||||
|
5 | 0.882 | 0.120 | 6 | 36677919 | 5 prime UTR variant | A/G | snv | 0.43 | 0.49 | 0.030 | 1.000 | 3 | 2014 | 2019 | |||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.030 | 0.333 | 3 | 2002 | 2009 | |||
|
11 | 0.790 | 0.240 | 10 | 87945672 | non coding transcript exon variant | G/C | snv | 0.39 | 0.030 | 1.000 | 3 | 2012 | 2016 | ||||
|
10 | 0.790 | 0.160 | 3 | 37014530 | missense variant | T/C | snv | 2.0E-05 | 0.030 | 1.000 | 3 | 2008 | 2012 | ||||
|
13 | 0.763 | 0.200 | 10 | 129766957 | missense variant | C/T | snv | 2.0E-05 | 0.030 | 1.000 | 3 | 2008 | 2012 | ||||
|
20 | 0.701 | 0.440 | 2 | 241850169 | 3 prime UTR variant | C/T | snv | 0.21 | 0.020 | 1.000 | 2 | 2014 | 2016 |