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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
16 | 0.851 | 0.120 | 4 | 139829967 | intron variant | G/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 2 | 152730385 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
3 | 0.925 | 0.200 | 10 | 45396036 | intron variant | A/G | snv | 0.37 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
18 | 0.708 | 0.320 | 22 | 35380679 | intron variant | A/T | snv | 0.49 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 9 | 133257246 | intron variant | A/G | snv | 0.40 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 0.882 | 0.200 | 12 | 12138545 | intron variant | G/A;C | snv | 0.18 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 11 | 122520479 | intron variant | T/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 11 | 120156040 | intron variant | G/A | snv | 9.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 0.925 | 0.080 | 12 | 117288937 | intron variant | T/A | snv | 0.39 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.040 | 12 | 111774029 | intron variant | T/C | snv | 0.52 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.200 | 7 | 18935566 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1 | 8035440 | intron variant | T/G | snv | 0.27 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 1.000 | 0.080 | 8 | 1907598 | intron variant | C/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
38 | 0.645 | 0.480 | 4 | 71742666 | intron variant | T/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 15 | 89188545 | intron variant | T/C | snv | 9.6E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 9 | 133424254 | intron variant | T/C | snv | 0.68 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 2 | 152617280 | intron variant | T/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
7 | 0.851 | 0.120 | 16 | 31092475 | intron variant | A/G | snv | 0.66 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
17 | 0.742 | 0.320 | 9 | 22115027 | intron variant | A/G | snv | 0.49 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 14 | 36140472 | intron variant | G/A | snv | 0.46 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 16 | 55505279 | intron variant | C/G | snv | 0.50 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||
|
1 | 17 | 58374461 | intron variant | T/C | snv | 0.85 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 1257506 | intron variant | G/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2015 | 2015 |