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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.100 | 0.944 | 18 | 2002 | 2019 | |||
|
34 | 0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 | 0.100 | 0.882 | 17 | 2004 | 2019 | ||||
|
7 | 0.807 | 0.120 | 3 | 27374522 | 3 prime UTR variant | C/T | snv | 0.44 | 0.800 | 1.000 | 17 | 2009 | 2019 | ||||
|
46 | 0.623 | 0.560 | 19 | 13836478 | non coding transcript exon variant | T/A;C;G | snv | 0.34 | 0.38 | 0.100 | 0.941 | 17 | 2012 | 2020 | |||
|
101 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.100 | 1.000 | 16 | 2006 | 2019 | ||||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.100 | 1.000 | 16 | 2009 | 2020 | |||
|
8 | 0.790 | 0.280 | 11 | 1887776 | intron variant | T/C | snv | 0.26 | 0.800 | 0.938 | 16 | 2007 | 2017 | ||||
|
79 | 0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 | 0.100 | 0.733 | 15 | 2007 | 2017 | ||||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.100 | 0.867 | 15 | 2007 | 2020 | |||
|
39 | 0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 | 0.100 | 0.786 | 14 | 2003 | 2019 | |||
|
105 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 0.100 | 0.929 | 14 | 2009 | 2017 | |||
|
29 | 0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 | 0.100 | 0.923 | 13 | 2000 | 2017 | |||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.100 | 0.769 | 13 | 2003 | 2015 | ||||
|
72 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 0.100 | 0.750 | 12 | 2004 | 2018 | ||||
|
131 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 0.100 | 0.667 | 12 | 2006 | 2018 | |||
|
18 | 0.708 | 0.400 | 15 | 51210789 | 3 prime UTR variant | G/A | snv | 0.45 | 0.43 | 0.100 | 0.818 | 11 | 2008 | 2018 | |||
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.750 | 1.000 | 11 | 2011 | 2019 | ||||
|
4 | 0.882 | 0.080 | 10 | 62518923 | intron variant | G/A | snv | 0.16 | 0.770 | 1.000 | 11 | 2010 | 2017 | ||||
|
9 | 0.827 | 0.160 | 1 | 121538815 | intron variant | A/C;G | snv | 0.770 | 0.818 | 11 | 2009 | 2017 | |||||
|
2 | 0.925 | 0.080 | 10 | 121580797 | intron variant | C/A;T | snv | 0.790 | 0.909 | 11 | 2009 | 2018 | |||||
|
31 | 0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv | 0.100 | 0.818 | 11 | 2004 | 2015 | |||||
|
8 | 0.776 | 0.200 | 14 | 68567965 | intron variant | C/T | snv | 0.16 | 0.770 | 0.909 | 11 | 2009 | 2017 | ||||
|
30 | 0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv | 0.22 | 0.30 | 0.100 | 0.800 | 10 | 2004 | 2015 | |||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.100 | 0.800 | 10 | 2009 | 2019 | ||||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.100 | 1.000 | 10 | 2007 | 2020 |