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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.827 | 0.160 | 6 | 160073377 | missense variant | A/C;G;T | snv | 0.90 | 0.91 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
24 | 0.667 | 0.520 | 20 | 46013767 | missense variant | G/C;T | snv | 0.88; 1.6E-05 | 0.020 | 1.000 | 2 | 2005 | 2007 | ||||
|
15 | 0.763 | 0.360 | 12 | 20858546 | missense variant | T/C;G | snv | 0.81 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.020 | 1.000 | 2 | 2014 | 2015 | |||
|
6 | 0.882 | 0.120 | 3 | 8913705 | missense variant | C/T | snv | 0.68 | 0.70 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.030 | 1.000 | 3 | 2010 | 2014 | ||||
|
21 | 0.689 | 0.440 | 2 | 31580636 | missense variant | G/A;C;T | snv | 0.66; 4.9E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
13 | 0.742 | 0.240 | 19 | 43575535 | 5 prime UTR variant | G/A | snv | 0.65 | 0.60 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 1.000 | 0.080 | 10 | 113574365 | synonymous variant | C/T | snv | 0.63 | 0.55 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 1.000 | 0.080 | 10 | 113580733 | intron variant | G/A;C | snv | 0.57; 8.2E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
107 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||
|
25 | 0.695 | 0.320 | 17 | 30117165 | 5 prime UTR variant | A/C;T | snv | 0.50; 3.1E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
12 | 0.807 | 0.240 | 2 | 11218994 | missense variant | G/C;T | snv | 0.49 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
11 | 0.790 | 0.240 | 1 | 22638945 | synonymous variant | A/G | snv | 0.49 | 0.51 | 0.020 | 1.000 | 2 | 2006 | 2010 | |||
|
2 | 1.000 | 0.080 | 16 | 56830706 | intron variant | C/T | snv | 0.48 | 0.48 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 1.000 | 0.080 | 16 | 56834788 | intron variant | A/G | snv | 0.47 | 0.47 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
16 | 0.742 | 0.320 | 18 | 52906232 | missense variant | C/A;G | snv | 0.45 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
111 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
73 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 0.020 | 1.000 | 2 | 2005 | 2010 | |||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.020 | < 0.001 | 2 | 2004 | 2005 | |||
|
5 | 0.882 | 0.080 | 17 | 43093220 | synonymous variant | A/G | snv | 0.35 | 0.29 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
6 | 0.851 | 0.240 | 9 | 36105267 | synonymous variant | A/C;G | snv | 4.0E-06; 0.34 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
46 | 0.623 | 0.560 | 19 | 13836478 | non coding transcript exon variant | T/A;C;G | snv | 0.34 | 0.38 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
58 | 0.597 | 0.560 | 5 | 177093242 | missense variant | G/A | snv | 0.33 | 0.26 | 0.020 | 0.500 | 2 | 2012 | 2017 | |||
|
8 | 0.882 | 0.120 | 11 | 65649963 | synonymous variant | G/A | snv | 0.31 | 0.30 | 0.010 | 1.000 | 1 | 2010 | 2010 |