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 | 13 | 102401633 | missense variant | A/G;T | snv | 2.4E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.882 | 0.080 | 1 | 10258602 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
2 | 0.925 | 0.040 | 7 | 103849545 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.040 | 12 | 104321282 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
39 | 0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
7 | 0.851 | 0.280 | 11 | 108331498 | missense variant | G/C;T | snv | 2.4E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
3 | 0.925 | 13 | 110187254 | missense variant | G/A;C;T | snv | 1.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.925 | 13 | 110201467 | missense variant | G/A | snv | 5.2E-05 | 1.7E-04 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.807 | 0.120 | 1 | 11022301 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 1 | 11022556 | missense variant | A/G | snv | 1.7E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
3 | 0.882 | 0.080 | 19 | 11089549 | start lost | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.882 | 0.040 | 11 | 111911694 | missense variant | G/A;C | snv | 3.2E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.080 | 11 | 112093192 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
36 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.040 | 1.000 | 4 | 1998 | 2002 | |||||
|
42 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.040 | 1.000 | 4 | 1998 | 2002 | |||
|
17 | 0.732 | 0.200 | 5 | 112839543 | missense variant | G/C | snv | 4.4E-03 | 5.6E-03 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
56 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
36 | 0.689 | 0.480 | 11 | 113412737 | synonymous variant | G/A | snv | 0.41 | 0.38 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
11 | 0.790 | 0.160 | 11 | 113475529 | intron variant | -/G | delins | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
27 | 0.683 | 0.360 | 10 | 113588287 | missense variant | G/A | snv | 2.2E-02 | 2.4E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
8 | 0.827 | 0.080 | 8 | 11750213 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
17 | 0.716 | 0.320 | 10 | 121586676 | intron variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2013 | 2016 |