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 | 11 | 612721 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 14 | 94379496 | missense variant | C/A;T | snv | 1.4E-04 | 2.1E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 19 | 41352886 | synonymous variant | G/A | snv | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||
|
1 | 3 | 122555701 | missense variant | T/C | snv | 4.4E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
98 | 0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
82 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
64 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
52 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
36 | 0.633 | 0.720 | 4 | 153704257 | synonymous variant | T/C | snv | 9.0E-02 | 6.7E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
43 | 0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
31 | 0.653 | 0.600 | 2 | 218395009 | missense variant | G/A;C | snv | 4.9E-02; 4.1E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
21 | 0.677 | 0.680 | 4 | 73741338 | intron variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
28 | 0.677 | 0.560 | 10 | 104263031 | missense variant | C/A | snv | 0.25 | 0.23 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
26 | 0.683 | 0.360 | 4 | 24800212 | missense variant | C/G | snv | 2.3E-02 | 1.2E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
23 | 0.689 | 0.560 | 1 | 247425556 | missense variant | C/A | snv | 3.9E-02 | 3.3E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
37 | 0.708 | 0.320 | 14 | 94378610 | missense variant | C/G;T | snv | 2.8E-05; 1.1E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
18 | 0.716 | 0.240 | 7 | 117530975 | missense variant | G/A;C;T | snv | 1.5E-03; 1.2E-05 | 0.040 | 1.000 | 4 | 2000 | 2019 | ||||
|
16 | 0.716 | 0.320 | 7 | 117559479 | missense variant | G/A | snv | 0.47 | 0.57 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
15 | 0.732 | 0.440 | 7 | 117587806 | missense variant | G/A | snv | 1.8E-04 | 3.0E-04 | 0.020 | 1.000 | 2 | 1995 | 2017 | |||
|
17 | 0.732 | 0.280 | 4 | 24800161 | missense variant | G/C | snv | 1.6E-04 | 2.1E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 |