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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.851 | 0.160 | 7 | 100093577 | mature miRNA variant | C/T | snv | 6.4E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
32 | 0.641 | 0.520 | 10 | 100975021 | mature miRNA variant | C/G | snv | 0.27 | 0.27 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.080 | 14 | 101022077 | mature miRNA variant | A/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
14 | 0.742 | 0.240 | 19 | 10180505 | missense variant | T/C | snv | 2.4E-02 | 9.6E-03 | 0.030 | 1.000 | 3 | 2012 | 2019 | |||
|
2 | 0.925 | 0.080 | 2 | 102178143 | 3 prime UTR variant | A/G | snv | 0.12 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 2 | 102396972 | 3 prime UTR variant | C/A | snv | 3.7E-02 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.080 | 2 | 102397842 | 3 prime UTR variant | T/G | snv | 0.23 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
13 | 0.732 | 0.440 | 12 | 102399855 | 3 prime UTR variant | A/G | snv | 2.1E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
9 | 0.807 | 0.280 | 12 | 102402744 | intron variant | G/C;T | snv | 0.76 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 12 | 102430122 | intron variant | G/A | snv | 2.2E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.851 | 0.160 | 10 | 102435445 | upstream gene variant | A/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
20 | 0.701 | 0.480 | 2 | 102454108 | downstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
11 | 0.752 | 0.440 | 12 | 102481086 | intron variant | A/G | snv | 5.6E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
56 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
9 | 0.790 | 0.240 | 4 | 102597148 | intron variant | A/G | snv | 0.31 | 0.030 | 1.000 | 3 | 2012 | 2015 | ||||
|
4 | 0.882 | 0.120 | 4 | 102609955 | intron variant | A/G | snv | 0.64 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
48 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
20 | 0.701 | 0.280 | 13 | 102844409 | intron variant | C/T | snv | 0.18 | 0.060 | 0.833 | 6 | 2016 | 2019 | ||||
|
15 | 0.724 | 0.360 | 13 | 102845848 | 5 prime UTR variant | A/G | snv | 0.76 | 0.100 | 0.833 | 12 | 2012 | 2019 | ||||
|
21 | 0.695 | 0.280 | 13 | 102846025 | 5 prime UTR variant | T/C | snv | 0.38 | 0.030 | 1.000 | 3 | 2012 | 2019 | ||||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
20 | 0.695 | 0.320 | 13 | 102852167 | synonymous variant | T/C | snv | 0.52 | 0.59 | 0.030 | 0.667 | 3 | 2009 | 2017 | |||
|
9 | 0.790 | 0.240 | 13 | 102862735 | missense variant | G/A;C | snv | 4.3E-02 | 0.020 | 1.000 | 2 | 2009 | 2017 | ||||
|
52 | 0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 | 0.050 | 0.800 | 5 | 2009 | 2018 | |||
|
25 | 0.677 | 0.360 | 13 | 102875987 | 3 prime UTR variant | G/A | snv | 0.59 | 0.020 | 1.000 | 2 | 2016 | 2017 |