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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 1.000 | 0.950 | 80 | 2004 | 2020 | |||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.080 | 1.000 | 8 | 1996 | 2018 | |||
|
26 | 0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 | 0.810 | 1.000 | 5 | 2007 | 2015 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.030 | 0.667 | 3 | 1999 | 2006 | |||
|
10 | 0.790 | 0.320 | 1 | 206766559 | upstream gene variant | G/A | snv | 0.11 | 0.800 | 1.000 | 3 | 2009 | 2015 | ||||
|
57 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 0.020 | 1.000 | 2 | 2012 | 2013 | ||||
|
2 | 1.000 | 0.120 | 1 | 238590616 | intergenic variant | T/A;C | snv | 0.720 | 0.500 | 2 | 2018 | 2020 | |||||
|
40 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 1 | 32262639 | intron variant | C/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.200 | 1 | 167496884 | intron variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
13 | 0.732 | 0.360 | 1 | 169707345 | missense variant | A/G | snv | 0.21 | 0.22 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
14 | 0.724 | 0.240 | 1 | 67203951 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.200 | 1 | 167479867 | intron variant | A/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 1 | 113875583 | intron variant | A/C | snv | 0.58 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 1 | 113814589 | 3 prime UTR variant | G/A | snv | 0.78 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.120 | 1 | 113859282 | intron variant | T/G | snv | 0.56 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
12 | 0.763 | 0.280 | 1 | 65621409 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.925 | 0.200 | 1 | 113877706 | 3 prime UTR variant | C/A;T | snv | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.120 | 1 | 113856592 | missense variant | G/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
46 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
34 | 0.637 | 0.600 | 1 | 67168129 | missense variant | G/T | snv | 0.52 | 0.51 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
14 | 0.724 | 0.240 | 1 | 81771892 | intron variant | C/T | snv | 0.71 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.807 | 0.240 | 1 | 113537449 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2015 | 2015 |