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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.732 | 0.400 | 8 | 19954222 | missense variant | G/A;C | snv | 1.9E-04 | 0.860 | 0.963 | 6 | 1990 | 2012 | ||||
|
1 | 1.000 | 0.080 | 8 | 19955876 | missense variant | T/A | snv | 0.810 | 1.000 | 1 | 1990 | 2012 | |||||
|
9 | 0.807 | 0.160 | 8 | 19954279 | missense variant | C/T | snv | 4.0E-05 | 1.4E-05 | 0.810 | 1.000 | 1 | 1990 | 2012 | |||
|
1 | 1.000 | 0.080 | 8 | 19955874 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.810 | 1.000 | 1 | 1990 | 2017 | |||
|
1 | 1.000 | 0.080 | 8 | 19954126 | missense variant | A/G | snv | 0.810 | 1.000 | 1 | 1990 | 2012 | |||||
|
1 | 1.000 | 0.080 | 8 | 19954271 | missense variant | C/G | snv | 4.0E-06 | 0.810 | 1.000 | 1 | 1990 | 2012 | ||||
|
2 | 0.925 | 0.120 | 8 | 19955894 | missense variant | G/A | snv | 1.6E-05 | 1.4E-05 | 0.810 | 1.000 | 1 | 1990 | 2012 | |||
|
1 | 1.000 | 0.080 | 8 | 19951856 | missense variant | T/C | snv | 7.0E-06 | 0.810 | 1.000 | 1 | 1990 | 2012 | ||||
|
1 | 1.000 | 0.080 | 8 | 19954174 | missense variant | C/G;T | snv | 4.0E-06 | 0.810 | 1.000 | 1 | 1993 | 2012 | ||||
|
1 | 1.000 | 0.080 | 8 | 19954199 | missense variant | C/G;T | snv | 1.2E-05 | 0.810 | 1.000 | 1 | 1993 | 2012 | ||||
|
4 | 0.851 | 0.120 | 8 | 19955863 | missense variant | C/G;T | snv | 1.5E-04 | 0.810 | 1.000 | 1 | 2000 | 2012 | ||||
|
6 | 0.827 | 0.120 | 8 | 19955900 | missense variant | C/G | snv | 1.1E-04 | 6.3E-05 | 0.720 | 1.000 | 2 | 1990 | 2016 | |||
|
2 | 1.000 | 0.080 | 8 | 19955901 | missense variant | T/G | snv | 1.2E-05 | 1.4E-05 | 0.710 | 1.000 | 1 | 2000 | 2000 | |||
|
1 | 1.000 | 0.080 | 8 | 19954258 | missense variant | T/A;C | snv | 3.6E-05 | 0.710 | 1.000 | 1 | 1990 | 2019 | ||||
|
36 | 0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 | 0.030 | 1.000 | 3 | 1999 | 2019 | |||
|
13 | 0.742 | 0.240 | 8 | 19948197 | missense variant | G/A;C | snv | 1.4E-02; 2.0E-05 | 0.020 | 1.000 | 2 | 1996 | 1996 | ||||
|
6 | 0.827 | 0.120 | 8 | 19955896 | frameshift variant | CT/- | delins | 0.020 | 1.000 | 2 | 2000 | 2016 | |||||
|
2 | 0.925 | 0.080 | 16 | 869982 | stop gained | G/A;C | snv | 1.6E-04; 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.120 | 22 | 36265520 | missense variant | G/A;C;T | snv | 0.84; 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.882 | 0.120 | 8 | 143215486 | missense variant | G/A;C | snv | 2.5E-05; 8.5E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
12 | 0.752 | 0.320 | 1 | 1212042 | synonymous variant | C/T | snv | 0.37 | 0.31 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.080 | 11 | 116790940 | stop gained | G/A;T | snv | 8.0E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.827 | 0.240 | 22 | 36265284 | missense variant | G/A | snv | 0.79 | 0.68 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
22 | 0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
17 | 0.716 | 0.400 | 1 | 173206693 | intron variant | A/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2013 | 2013 |