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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.732 | 0.360 | 1 | 169707345 | missense variant | A/G | snv | 0.21 | 0.22 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
2 | 1.000 | 0.040 | 4 | 38778850 | intron variant | T/C | snv | 0.13 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 5 | 35873503 | missense variant | G/A;T | snv | 9.5E-03; 4.0E-06 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 8 | 130177997 | intron variant | C/T | snv | 0.61 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 10 | 17853040 | synonymous variant | C/T | snv | 7.0E-06 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
17 | 0.724 | 0.640 | 6 | 32396039 | missense variant | T/C | snv | 0.42 | 0.40 | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.040 | 2 | 218401700 | synonymous variant | C/A;T | snv | 0.25 | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||
|
1 | 1.000 | 0.040 | 2 | 218403058 | synonymous variant | C/T | snv | 0.57 | 0.46 | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||
|
2 | 0.925 | 0.160 | 2 | 112917503 | intron variant | A/G;T | snv | 0.91 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 2 | 112917692 | missense variant | C/T | snv | 6.8E-02 | 1.0E-01 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.040 | 2 | 191111876 | intron variant | A/G | snv | 0.65 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 4 | 77439033 | intron variant | T/C;G | snv | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 4 | 77439174 | intron variant | G/A | snv | 0.19 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 6 | 137199749 | intron variant | C/T | snv | 0.20 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 10 | 17849736 | missense variant | G/A;C;T | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.080 | 5 | 150848404 | missense variant | C/A;T | snv | 4.9E-02 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 11 | 126292967 | synonymous variant | C/T | snv | 0.18 | 0.19 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
6 | 0.851 | 0.120 | 17 | 78361310 | intron variant | C/A | snv | 0.17 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 6 | 137209894 | 5 prime UTR variant | C/T | snv | 0.22 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 6 | 137211614 | intron variant | G/A | snv | 0.20 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 6 | 137218368 | intron variant | C/G | snv | 0.22 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 8 | 130240512 | intron variant | A/G | snv | 0.37 | 0.040 | 0.250 | 4 | 2015 | 2018 | ||||
|
10 | 0.807 | 0.400 | 2 | 112913833 | missense variant | A/G | snv | 0.71 | 0.60 | 0.020 | 0.500 | 2 | 2016 | 2017 | |||
|
3 | 0.882 | 0.080 | 6 | 32642624 | missense variant | G/A | snv | 0.18 | 8.7E-02 | 0.020 | 0.500 | 2 | 2016 | 2019 | |||
|
105 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 0.050 | 0.600 | 5 | 2013 | 2017 |