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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.160 | 7 | 36878390 | intron variant | C/T | snv | 0.59 | 0.030 | 1.000 | 3 | 2013 | 2019 | ||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.030 | 1.000 | 3 | 2014 | 2018 | |||||
|
2 | 0.925 | 0.160 | 10 | 67900736 | intron variant | G/A | snv | 7.1E-02 | 0.020 | 1.000 | 2 | 2017 | 2018 | ||||
|
3 | 0.882 | 0.160 | 13 | 109599813 | intron variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2010 | 2011 | |||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.020 | 1.000 | 2 | 2014 | 2015 | |||||
|
5 | 0.851 | 0.240 | 13 | 40565740 | intron variant | G/A | snv | 0.16 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
25 | 0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins | 0.020 | 1.000 | 2 | 2007 | 2009 | |||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.020 | 0.500 | 2 | 2015 | 2019 | ||||
|
15 | 0.724 | 0.400 | 6 | 32182519 | intron variant | C/A | snv | 0.12 | 0.12 | 0.020 | 1.000 | 2 | 2012 | 2017 | |||
|
6 | 0.882 | 0.200 | 11 | 2837316 | intron variant | C/T | snv | 8.1E-02 | 0.020 | 1.000 | 2 | 2010 | 2012 | ||||
|
6 | 0.851 | 0.200 | 12 | 109205840 | intron variant | G/A | snv | 0.14 | 0.020 | 1.000 | 2 | 2013 | 2015 | ||||
|
4 | 0.851 | 0.160 | 2 | 212304043 | intron variant | G/A | snv | 0.96 | 0.020 | 1.000 | 2 | 2012 | 2013 | ||||
|
4 | 0.882 | 0.200 | 1 | 42935767 | intron variant | A/C | snv | 0.66 | 0.020 | 1.000 | 2 | 2012 | 2018 | ||||
|
1 | 1.000 | 0.120 | 4 | 155712034 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 12 | 20452282 | intron variant | A/G | snv | 0.86 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 22 | 31183247 | intron variant | C/T | snv | 0.79 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 7 | 37173878 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 12 | 77971000 | intron variant | T/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.200 | 11 | 122146890 | intron variant | C/T | snv | 0.53 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.200 | 17 | 63498888 | intron variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.120 | 14 | 59192073 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 8 | 123077286 | intron variant | C/A;G | snv | 0.28; 4.8E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.200 | 10 | 95524324 | intron variant | C/T | snv | 0.63 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 7 | 37161008 | intron variant | G/A | snv | 0.61 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.160 | 22 | 36261386 | intron variant | G/C | snv | 0.51 | 0.700 | 1.000 | 1 | 2015 | 2015 |