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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.776 | 0.240 | 4 | 89716450 | intron variant | G/A | snv | 0.54 | 0.020 | 1.000 | 2 | 2013 | 2017 | ||||
|
2 | 0.925 | 0.040 | 1 | 54106570 | intron variant | C/A | snv | 0.57 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.851 | 0.080 | 4 | 89718364 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 1 | 54106502 | intron variant | T/C | snv | 0.30 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 5 | 44515833 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.040 | 5 | 96742998 | intron variant | A/G | snv | 9.4E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.080 | 4 | 89757390 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 5 | 96710335 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
6 | 0.807 | 0.240 | 6 | 32441753 | intron variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.080 | 4 | 89704960 | intron variant | G/A | snv | 0.65 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 22 | 32625012 | intron variant | C/G | snv | 9.1E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.882 | 0.080 | 5 | 1411740 | intron variant | -/ACATACACACTCAGACACACATACCATGCA | ins | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | 22 | 32611052 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 1 | 109566120 | intron variant | G/A | snv | 0.29 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.040 | 3 | 59442071 | intron variant | G/A | snv | 5.1E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.080 | 4 | 76277833 | intron variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 5 | 9332169 | intron variant | T/A | snv | 0.70 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
4 | 0.851 | 0.080 | 15 | 77671545 | intron variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.040 | 1 | 227966216 | intergenic variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.040 | 9 | 74302924 | regulatory region variant | C/T | snv | 0.44 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
78 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.100 | 0.968 | 31 | 2005 | 2019 | |||
|
15 | 0.742 | 0.120 | 12 | 40363526 | missense variant | G/A | snv | 1.7E-03 | 5.8E-04 | 0.090 | 1.000 | 9 | 2007 | 2019 | |||
|
24 | 0.708 | 0.120 | 12 | 40310434 | missense variant | C/A;G;T | snv | 4.0E-06; 1.2E-05 | 0.060 | 0.833 | 6 | 2006 | 2013 | ||||
|
10 | 0.790 | 0.160 | 4 | 41257616 | missense variant | C/A | snv | 0.24 | 0.16 | 0.060 | 0.833 | 6 | 2001 | 2011 | |||
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.040 | 1.000 | 4 | 2001 | 2020 |