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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 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 | ||||
|
3 | 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 | |||
|
4 | 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 | ||||
|
5 | 0.827 | 0.240 | 22 | 36265284 | missense variant | G/A | snv | 0.79 | 0.68 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
26 | 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 | ||||
|
2 | 0.925 | 0.080 | 8 | 143215097 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
14 | 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 | |||||
|
41 | 0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 | 0.030 | 1.000 | 3 | 1999 | 2019 | |||
|
1 | 1.000 | 0.080 | 8 | 19956048 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 1.000 | 20 | 1990 | 2005 | ||||
|
3 | 0.925 | 0.120 | 8 | 19962134 | missense variant | G/A | snv | 6.0E-05 | 2.1E-04 | 0.700 | 1.000 | 20 | 1990 | 2005 | |||
|
1 | 1.000 | 0.080 | 8 | 19951805 | missense variant | G/C | snv | 9.9E-05 | 1.3E-04 | 0.700 | 1.000 | 20 | 1990 | 2005 | |||
|
1 | 1.000 | 0.080 | 8 | 19959335 | missense variant | C/T | snv | 2.0E-05 | 0.700 | 1.000 | 20 | 1990 | 2005 | ||||
|
1 | 1.000 | 0.080 | 8 | 19956040 | missense variant | C/G | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 20 | 1990 | 2005 | |||
|
1 | 1.000 | 0.080 | 8 | 19954273 | missense variant | T/G | snv | 8.0E-06 | 0.700 | 1.000 | 20 | 1990 | 2005 | ||||
|
1 | 1.000 | 0.080 | 8 | 19955978 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 1.000 | 20 | 1990 | 2005 | ||||
|
1 | 1.000 | 0.080 | 8 | 19954125 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 20 | 1990 | 2005 | ||||
|
1 | 1.000 | 0.080 | 8 | 19955930 | missense variant | T/C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 8 | 19951916 | stop gained | C/G;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 8 | 19951783 | stop gained | T/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 8 | 19960988 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 19951791 | stop gained | G/A | snv | 4.0E-06 | 3.5E-05 | 0.700 | 0 |