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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
29 | 0.658 | 0.400 | 1 | 206776020 | intron variant | A/T | snv | 0.32 | 0.020 | 1.000 | 2 | 2007 | 2009 | ||||
|
46 | 0.611 | 0.600 | 10 | 44372809 | 3 prime UTR variant | C/T | snv | 0.16 | 0.020 | 1.000 | 2 | 2009 | 2018 | ||||
|
45 | 0.620 | 0.560 | 17 | 18328782 | missense variant | G/A | snv | 0.27 | 0.31 | 0.020 | 1.000 | 2 | 2004 | 2015 | |||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.020 | 1.000 | 2 | 2009 | 2016 | |||
|
7 | 0.790 | 0.320 | 6 | 32696681 | intergenic variant | T/C | snv | 0.64 | 0.020 | 1.000 | 2 | 2013 | 2017 | ||||
|
33 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2004 | 2007 | |||||
|
4 | 0.851 | 0.200 | 2 | 201258707 | intron variant | C/T | snv | 0.57 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
38 | 0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
18 | 0.708 | 0.320 | 17 | 43092919 | missense variant | G/A;C;T | snv | 0.40; 1.6E-05 | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||
|
2 | 1.000 | 0.120 | 4 | 38764099 | intergenic variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.120 | 3 | 159989088 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
18 | 0.708 | 0.320 | 2 | 100840527 | intron variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 19 | 48955724 | missense variant | G/A | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
21 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
3 | 0.882 | 0.160 | 1 | 100718269 | upstream gene variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
9 | 0.790 | 0.200 | 15 | 33866065 | 3 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
9 | 0.790 | 0.200 | 4 | 184628935 | 3 prime UTR variant | A/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
18 | 0.708 | 0.320 | 15 | 60997989 | intron variant | C/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.807 | 0.200 | 1 | 15506048 | missense variant | T/A;C | snv | 0.53 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
58 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
23 | 0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
15 | 0.763 | 0.280 | 10 | 46046326 | 5 prime UTR variant | A/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.160 | 11 | 45852713 | intron variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.160 | 3 | 126107216 | missense variant | T/C | snv | 0.18 | 0.20 | 0.010 | 1.000 | 1 | 2013 | 2013 |