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 | 0.827 | 0.240 | 6 | 31273255 | intron variant | A/G | snv | 0.15 | 0.720 | 1.000 | 2 | 2017 | 2018 | ||||
|
3 | 0.882 | 0.240 | 16 | 49912759 | intergenic variant | C/G;T | snv | 0.27 | 0.710 | 1.000 | 1 | 2017 | 2018 | ||||
|
34 | 0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 | 0.020 | 1.000 | 2 | 2012 | 2017 | ||||
|
6 | 0.827 | 0.280 | 19 | 41012316 | missense variant | T/C | snv | 5.1E-03 | 2.2E-02 | 0.020 | 1.000 | 2 | 2013 | 2014 | |||
|
1 | 1.000 | 0.160 | 2 | 85694429 | stop gained | G/A;T | snv | 6.4E-03 | 2.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
56 | 0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
57 | 0.581 | 0.680 | 16 | 27363079 | missense variant | A/G | snv | 0.25 | 0.36 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
7 | 0.851 | 0.200 | 17 | 27801555 | intron variant | C/A | snv | 0.33 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
30 | 0.672 | 0.480 | 19 | 41006936 | missense variant | G/A;T | snv | 4.0E-06; 0.27 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
38 | 0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.160 | 11 | 22670928 | intron variant | T/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.882 | 0.280 | 6 | 31411083 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.240 | 6 | 111601300 | 5 prime UTR variant | G/C | snv | 5.8E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
181 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.280 | 5 | 132679856 | missense variant | G/A | snv | 6.8E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
3 | 0.882 | 0.240 | 16 | 49906847 | intergenic variant | G/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2018 | 2018 |