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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 12 | 89935056 | intron variant | T/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 11 | 26325284 | intron variant | T/C | snv | 1.7E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 1 | 207841577 | intron variant | T/C | snv | 0.19 | 0.710 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 1 | 186671995 | 3 prime UTR variant | A/T | snv | 4.6E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 2 | 27256512 | missense variant | G/A;C | snv | 5.8E-04; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 1 | 186671994 | 3 prime UTR variant | T/A | snv | 1.7E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 1 | 207756858 | intron variant | G/A | snv | 0.80 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 1 | 78628133 | missense variant | A/G | snv | 0.38 | 0.36 | 0.710 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.080 | 2 | 165378122 | intron variant | C/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 1 | 186671572 | downstream gene variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 2 | 165991477 | missense variant | C/A;T | snv | 2.0E-05; 8.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 2 | 166058626 | stop gained | G/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 6 | 29610981 | missense variant | C/T | snv | 4.1E-06 | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||
|
2 | 0.925 | 0.080 | 2 | 165292743 | intron variant | C/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 6 | 29613344 | missense variant | C/T | snv | 1.1E-03 | 1.5E-03 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
2 | 0.925 | 0.080 | 5 | 162108749 | intron variant | C/T | snv | 0.54 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 5 | 162149412 | 3 prime UTR variant | C/A | snv | 0.30 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.080 | 2 | 165344371 | intron variant | A/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 2 | 166122240 | intron variant | C/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 2 | 166288466 | missense variant | G/A | snv | 8.1E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 2 | 166286614 | missense variant | C/T | snv | 9.4E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 1.000 | 0.080 | 2 | 166036051 | frameshift variant | TT/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 2 | 166056450 | stop gained | A/G;T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
3 | 0.882 | 0.080 | 2 | 166041277 | missense variant | T/A;C | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.080 | 20 | 46056217 | missense variant | G/A;T | snv | 3.3E-03; 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 |