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 | 11 | 61959519 | missense variant | C/G;T | snv | 4.0E-06 | 0.800 | 0 | |||||||
|
1 | 1.000 | 0.080 | 11 | 61959511 | inframe deletion | TCA/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 11 | 61951893 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 11 | 61959518 | missense variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 61959540 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 61955195 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 61956897 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 61951892 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 61959530 | missense variant | G/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 11 | 61957430 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 61962622 | frameshift variant | CA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 61955124 | frameshift variant | -/CA | delins | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.080 | 11 | 61955825 | stop gained | G/C;T | snv | 2.7E-05 | 0.710 | 1.000 | 1 | 2001 | 2001 | ||||
|
2 | 0.925 | 0.080 | 11 | 61959504 | missense variant | G/A;C | snv | 0.710 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.080 | 11 | 61959545 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
3 | 0.882 | 0.080 | 6 | 42704565 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 11 | 61956981 | missense variant | C/A | snv | 3.9E-03 | 1.7E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.080 | 11 | 61951919 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 12 | 51910615 | intron variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 12 | 6839304 | missense variant | T/C | snv | 0.36 | 0.36 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 11 | 61955177 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 11 | 61956986 | synonymous variant | G/A | snv | 1.3E-03 | 1.1E-03 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
2 | 0.925 | 0.160 | 1 | 162535706 | regulatory region variant | A/G | snv | 4.8E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 11 | 61951826 | missense variant | G/A | snv | 2.8E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 |