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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.080 | 12 | 100426307 | downstream gene variant | A/G | snv | 8.7E-02 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
1 | 2 | 10122697 | synonymous variant | C/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
54 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 21 | 10567746 | missense variant | G/A;C | snv | 2.4E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
25 | 0.708 | 0.440 | 12 | 112450406 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 5 | 112819077 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
10 | 0.807 | 0.400 | 2 | 112913833 | missense variant | A/G | snv | 0.71 | 0.60 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
50 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
10 | 0.790 | 0.120 | 7 | 116700208 | missense variant | A/G | snv | 2.7E-02 | 1.8E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 9 | 117712651 | missense variant | A/G | snv | 6.5E-04 | 4.3E-04 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 0.500 | 2 | 2014 | 2018 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
41 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.882 | 0.080 | 5 | 1271959 | intron variant | C/T | snv | 5.1E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
31 | 0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
29 | 0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 0.882 | 0.080 | 5 | 1285917 | intron variant | G/A | snv | 7.8E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
83 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 0.080 | 1.000 | 8 | 2009 | 2016 | ||||
|
19 | 0.724 | 0.240 | 5 | 1287079 | 3 prime UTR variant | G/A | snv | 0.63 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
29 | 0.667 | 0.560 | 5 | 1288432 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
48 | 0.600 | 0.600 | 5 | 1293971 | synonymous variant | C/T | snv | 0.29 | 0.22 | 0.020 | 1.000 | 2 | 2013 | 2014 | |||
|
10 | 0.827 | 0.120 | 5 | 1294051 | missense variant | C/T | snv | 2.2E-02 | 2.2E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
10 | 0.763 | 0.280 | 3 | 129436608 | missense variant | C/T | snv | 5.8E-02 | 3.1E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
19 | 0.732 | 0.200 | 10 | 129467281 | synonymous variant | C/T | snv | 5.5E-02 | 5.1E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 |