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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 7 | 157000756 | intron variant | -/A | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.851 | 0.160 | 6 | 34242693 | intron variant | -/C | delins | 0.040 | 1.000 | 4 | 2013 | 2017 | |||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 1.000 | 2 | 2008 | 2011 | |||||
|
1 | 1.000 | 0.080 | 6 | 20665715 | intron variant | -/C | delins | 4.9E-05 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 11 | 17387124 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 2 | 240594824 | intron variant | -/CGGGAGGAGGGTGATGATTCTGTCCCAGGAGC | delins | 0.720 | 1.000 | 2 | 2010 | 2011 | |||||
|
1 | 1.000 | 0.080 | 5 | 52798410 | intron variant | -/T | delins | 0.91 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | X | 57144348 | intergenic variant | -/T;TT | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 1 | 154337120 | intron variant | A/- | del | 0.69 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | X | 118781201 | intron variant | A/-;AA;AAA | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.925 | 0.160 | 3 | 185811292 | intron variant | A/C | snv | 0.46 | 0.900 | 0.963 | 27 | 2007 | 2017 | ||||
|
7 | 0.827 | 0.160 | 6 | 20660803 | intron variant | A/C | snv | 0.40 | 0.900 | 1.000 | 13 | 2007 | 2019 | ||||
|
4 | 1.000 | 0.080 | 11 | 72722053 | 5 prime UTR variant | A/C | snv | 0.12 | 0.820 | 1.000 | 8 | 2010 | 2018 | ||||
|
1 | 1.000 | 0.080 | 11 | 2828300 | intron variant | A/C | snv | 0.10 | 0.760 | 1.000 | 8 | 2009 | 2017 | ||||
|
2 | 1.000 | 0.080 | 11 | 2800385 | intron variant | A/C | snv | 0.67 | 0.060 | 0.833 | 6 | 2009 | 2019 | ||||
|
1 | 1.000 | 0.080 | 2 | 226228869 | intergenic variant | A/C | snv | 0.75 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
38 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 0.030 | 0.667 | 3 | 2008 | 2013 | |||
|
4 | 0.882 | 0.200 | 1 | 42935767 | intron variant | A/C | snv | 0.66 | 0.030 | 1.000 | 3 | 2013 | 2019 | ||||
|
1 | 1.000 | 0.080 | 3 | 186620636 | synonymous variant | A/C | snv | 0.76 | 0.77 | 0.020 | 1.000 | 2 | 2005 | 2009 | |||
|
3 | 0.925 | 0.120 | 9 | 4291928 | intron variant | A/C | snv | 0.29 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
5 | 1.000 | 0.080 | 11 | 45851540 | intron variant | A/C | snv | 0.39 | 0.020 | 1.000 | 2 | 2011 | 2012 | ||||
|
2 | 1.000 | 0.080 | 18 | 60381959 | intron variant | A/C | snv | 0.12 | 0.800 | 1.000 | 2 | 2012 | 2017 | ||||
|
1 | 1.000 | 0.080 | 3 | 186854691 | missense variant | A/C | snv | 3.9E-04 | 1.8E-04 | 0.020 | < 0.001 | 2 | 2010 | 2014 | |||
|
1 | 1.000 | 0.080 | 4 | 74794307 | missense variant | A/C | snv | 0.19 | 0.25 | 0.020 | 1.000 | 2 | 2005 | 2006 | |||
|
11 | 0.776 | 0.320 | 8 | 118952749 | upstream gene variant | A/C | snv | 9.6E-02 | 0.020 | 1.000 | 2 | 2013 | 2015 |