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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 0.742 | 0.240 | 20 | 63349782 | missense variant | G/A;C | snv | 0.47; 6.1E-05 | 0.040 | 1.000 | 4 | 2004 | 2016 | ||||
|
5 | 0.827 | 0.160 | 15 | 78625057 | synonymous variant | A/G;T | snv | 0.69 | 0.020 | 1.000 | 2 | 2017 | 2018 | ||||
|
1 | 1.000 | 0.080 | 20 | 63346204 | 3 prime UTR variant | G/A;C | snv | 0.71 | 0.020 | 1.000 | 2 | 2005 | 2009 | ||||
|
1 | 1.000 | 0.080 | 8 | 27470994 | missense variant | G/A;T | snv | 0.17 | 0.020 | 1.000 | 2 | 2014 | 2014 | ||||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.080 | 15 | 78552014 | 3 prime UTR variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2017 | 2018 | |||||
|
1 | 1.000 | 0.080 | 2 | 50443116 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
9 | 0.763 | 0.160 | X | 43744144 | synonymous variant | T/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.160 | 21 | 25975126 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 9 | 84789171 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
83 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 9 | 89013167 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
8 | 0.790 | 0.120 | 6 | 77463564 | 5 prime UTR variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 9 | 741307 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
6 | 0.882 | 0.080 | 10 | 91588363 | regulatory region variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
31 | 0.708 | 0.320 | 6 | 35639794 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 11 | 113395026 | missense variant | C/T | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
8 | 0.827 | 0.160 | 11 | 636784 | upstream gene variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 1 | 154576245 | 3 prime UTR variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.080 | 9 | 98542066 | intron variant | C/G;T | snv | 0.25 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 1.000 | 0.080 | 17 | 7192188 | non coding transcript exon variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.080 | 20 | 63356709 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
8 | 0.776 | 0.200 | 19 | 41009358 | missense variant | A/G | snv | 0.13 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 17 | 7455958 | intron variant | T/C;G | snv | 0.18 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
5 | 0.882 | 0.120 | 6 | 55277539 | missense variant | A/G;T | snv | 0.84; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 |