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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.020 | < 0.001 | 2 | 2017 | 2019 | ||||
|
5 | 0.827 | 0.120 | 19 | 39298475 | missense variant | A/G | snv | 0.13 | 0.25 | 0.020 | < 0.001 | 2 | 2012 | 2019 | |||
|
1 | 1.000 | 0.040 | 2 | 85699222 | downstream gene variant | C/T | snv | 0.31 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
19 | 0.701 | 0.520 | 3 | 49358250 | missense variant | G/A | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
40 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.120 | 4 | 153700794 | intron variant | C/A;T | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
4 | 0.851 | 0.120 | 1 | 152302822 | stop gained | T/A;C | snv | 1.4E-03; 8.0E-06 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
54 | 0.587 | 0.520 | 16 | 50712015 | missense variant | C/T | snv | 2.6E-02 | 2.9E-02 | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||
|
26 | 0.672 | 0.360 | 6 | 149400554 | missense variant | G/A | snv | 0.55 | 0.57 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
10 | 0.752 | 0.440 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
42 | 0.620 | 0.680 | X | 49261784 | intron variant | G/A;T | snv | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.120 | 20 | 3667731 | upstream gene variant | A/G;T | snv | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||||
|
4 | 0.851 | 0.160 | 20 | 3669074 | intron variant | T/C | snv | 0.65 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
81 | 0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.040 | 17 | 74769592 | downstream gene variant | G/A | snv | 0.34 | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.040 | 2 | 85698633 | missense variant | C/A;G | snv | 0.42 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.040 | 6 | 31356368 | missense variant | A/C;G;T | snv | 0.12; 7.9E-05; 3.8E-04 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
51 | 0.590 | 0.800 | 6 | 159692720 | missense variant | G/A;T | snv | 8.0E-06 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
6 | 0.827 | 0.240 | 1 | 67209833 | intron variant | C/T | snv | 0.30 | 0.020 | 0.500 | 2 | 2011 | 2016 | ||||
|
4 | 0.882 | 0.080 | 5 | 96803547 | missense variant | C/A;G;T | snv | 0.64; 8.0E-06; 9.1E-04 | 0.020 | 0.500 | 2 | 2013 | 2018 | ||||
|
43 | 0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 | 0.020 | 0.500 | 2 | 2008 | 2012 | ||||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.020 | 0.500 | 2 | 2014 | 2017 | |||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.740 | 0.800 | 5 | 2008 | 2016 | |||
|
14 | 0.732 | 0.440 | 5 | 159395637 | intron variant | G/C | snv | 0.35 | 0.100 | 0.818 | 11 | 2007 | 2018 |