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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
29 | 0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv | 0.800 | 0.914 | 35 | 2007 | 2019 | |||||
|
17 | 0.724 | 0.480 | 8 | 127112671 | intron variant | C/A | snv | 0.16 | 0.800 | 0.955 | 22 | 2007 | 2019 | ||||
|
14 | 0.790 | 0.280 | 17 | 37738049 | intron variant | A/G | snv | 0.52 | 0.800 | 1.000 | 21 | 2007 | 2019 | ||||
|
4 | 0.882 | 0.160 | 17 | 71112612 | intron variant | G/T | snv | 0.56 | 0.770 | 0.923 | 13 | 2007 | 2018 | ||||
|
4 | 0.882 | 0.080 | 6 | 116888889 | intron variant | T/C | snv | 0.28 | 0.760 | 0.900 | 10 | 2010 | 2019 | ||||
|
3 | 0.925 | 0.080 | 8 | 127094635 | intron variant | A/C | snv | 0.17 | 0.780 | 1.000 | 10 | 2008 | 2017 | ||||
|
5 | 0.882 | 0.080 | 5 | 1895715 | intron variant | C/T | snv | 0.43 | 0.740 | 1.000 | 8 | 2010 | 2019 | ||||
|
12 | 0.776 | 0.280 | 17 | 37741165 | intron variant | C/T | snv | 0.41 | 0.740 | 1.000 | 8 | 2008 | 2018 | ||||
|
9 | 0.851 | 0.120 | 7 | 27936944 | intron variant | G/A | snv | 0.28 | 0.750 | 0.857 | 7 | 2010 | 2018 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.070 | 0.714 | 7 | 2009 | 2019 | ||||
|
28 | 0.677 | 0.440 | 4 | 105140377 | intron variant | C/A | snv | 0.50 | 0.720 | 0.857 | 7 | 2009 | 2018 | ||||
|
24 | 0.677 | 0.280 | 19 | 1090804 | intron variant | A/G | snv | 0.78 | 0.060 | 1.000 | 6 | 2011 | 2019 | ||||
|
2 | 0.925 | 0.080 | 17 | 37714971 | intron variant | A/G | snv | 0.85 | 0.730 | 1.000 | 5 | 2011 | 2019 | ||||
|
3 | 0.882 | 0.160 | 2 | 43326810 | intron variant | T/C | snv | 0.80 | 0.720 | 0.800 | 5 | 2009 | 2019 | ||||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.050 | 0.800 | 5 | 2012 | 2017 | ||||
|
62 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 0.050 | 0.800 | 5 | 2012 | 2017 | ||||
|
7 | 0.790 | 0.280 | 2 | 172446825 | intron variant | A/G | snv | 4.9E-02 | 0.710 | 1.000 | 4 | 2009 | 2019 | ||||
|
4 | 0.925 | 0.080 | 6 | 41568689 | intron variant | C/T | snv | 0.35 | 0.720 | 1.000 | 4 | 2010 | 2019 | ||||
|
3 | 0.882 | 0.160 | 10 | 125008303 | intron variant | T/C | snv | 0.23 | 0.720 | 1.000 | 4 | 2008 | 2018 | ||||
|
3 | 0.882 | 0.160 | 6 | 160412632 | intron variant | C/T | snv | 0.21 | 0.710 | 1.000 | 4 | 2008 | 2018 | ||||
|
2 | 0.925 | 0.080 | 2 | 85567174 | intron variant | T/A;C | snv | 0.700 | 1.000 | 3 | 2011 | 2018 | |||||
|
4 | 0.925 | 0.080 | 2 | 20688505 | intron variant | A/G | snv | 0.20 | 0.720 | 1.000 | 3 | 2010 | 2014 | ||||
|
3 | 0.925 | 0.080 | 8 | 127098007 | intron variant | A/G | snv | 0.13 | 0.030 | 1.000 | 3 | 2012 | 2016 | ||||
|
3 | 0.882 | 0.160 | 8 | 127308101 | intron variant | A/G | snv | 0.15 | 0.720 | 1.000 | 3 | 2009 | 2017 | ||||
|
1 | 1.000 | 0.080 | 1 | 150685811 | intron variant | A/G | snv | 0.17 | 0.700 | 1.000 | 3 | 2014 | 2018 |