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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.030 | 1.000 | 3 | 2002 | 2009 | ||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.020 | 1.000 | 2 | 2005 | 2010 | |||
|
3 | 0.882 | 0.200 | 2 | 162281473 | missense variant | T/C | snv | 9.7E-02 | 0.16 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.882 | 0.160 | 2 | 170829475 | missense variant | G/C | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
4 | 0.882 | 0.360 | 2 | 170853979 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
9 | 0.763 | 0.360 | 6 | 32584333 | missense variant | C/G | snv | 1.3E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
4 | 0.882 | 0.360 | 4 | 6301162 | missense variant | G/A | snv | 5.7E-02 | 5.0E-02 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
2 | 0.925 | 0.120 | 6 | 29724080 | splice region variant | C/G;T | snv | 0.42 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.120 | 4 | 76007275 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.120 | 17 | 42346547 | intron variant | T/C | snv | 1.2E-03 | 3.4E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.120 | 6 | 29728077 | 3 prime UTR variant | G/A | snv | 0.42 | 0.42 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
7 | 0.790 | 0.280 | 5 | 132301616 | intron variant | C/T | snv | 6.9E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.160 | 2 | 162280842 | intron variant | A/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 14 | 81142960 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1993 | 1993 | ||||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.010 | 1.000 | 1 | 2018 | 2018 |