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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.020 | 1.000 | 2 | 2011 | 2015 | ||||
|
6 | 0.807 | 0.080 | 11 | 103789839 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
7 | 0.827 | 0.120 | 6 | 16145094 | missense variant | A/G | snv | 0.60 | 0.63 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
9 | 0.790 | 0.240 | 17 | 39820216 | intron variant | C/T | snv | 0.52 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 1 | 11789412 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
82 | 0.547 | 0.720 | 11 | 46739084 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
8 | 0.790 | 0.120 | 19 | 11113680 | missense variant | G/T | snv | 0.020 | 1.000 | 2 | 2010 | 2013 | |||||
|
9 | 0.776 | 0.160 | 19 | 11113365 | missense variant | A/G;T | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
5 | 0.827 | 0.120 | 19 | 11113322 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
7 | 0.807 | 0.160 | 19 | 11107424 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
4 | 0.851 | 0.160 | 19 | 11105488 | frameshift variant | AGCCCCT/- | delins | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.882 | 0.080 | 15 | 33582074 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
15 | 0.752 | 0.120 | 20 | 35176751 | missense variant | A/G | snv | 0.10 | 9.7E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.050 | 1.000 | 5 | 2001 | 2019 | ||||
|
3 | 0.882 | 0.080 | 17 | 81696901 | synonymous variant | T/C | snv | 0.21 | 0.26 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.882 | 0.040 | 15 | 89030987 | intergenic variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
15 | 0.732 | 0.320 | 1 | 156138697 | synonymous variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
4 | 0.851 | 0.160 | 1 | 156134832 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.040 | 11 | 18269755 | missense variant | G/A | snv | 2.1E-03 | 8.0E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.030 | 0.667 | 3 | 2008 | 2010 | |||||
|
4 | 0.851 | 0.160 | 10 | 113041766 | intron variant | G/A | snv | 0.53 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.040 | 8 | 58505103 | upstream gene variant | A/T | snv | 0.55 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.080 | 22 | 40405776 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
14 | 0.742 | 0.240 | 16 | 58723829 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.882 | 0.080 | 3 | 138698965 | missense variant | T/C | snv | 4.0E-06 | 3.5E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 |