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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
24 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.810 | 1.000 | 1 | 2012 | 2014 | ||||
|
4 | 0.667 | 0.400 | 19 | 10352442 | missense variant | G/C | snv | 2.7E-02 | 2.8E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.683 | 0.560 | 5 | 35874473 | missense variant | C/T | snv | 0.23 | 0.21 | 0.800 | 1.000 | 2 | 2011 | 2017 | |||
|
3 | 0.701 | 0.360 | 17 | 39883866 | intergenic variant | T/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.732 | 0.360 | 19 | 10364976 | missense variant | C/A | snv | 0.27 | 0.23 | 0.800 | 1.000 | 1 | 2012 | 2015 | |||
|
3 | 0.732 | 0.320 | 7 | 128933913 | upstream gene variant | G/A | snv | 0.38 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.732 | 0.440 | 17 | 39913696 | intron variant | C/T | snv | 0.60 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.742 | 0.280 | 7 | 128954129 | upstream gene variant | T/C | snv | 9.0E-02 | 0.800 | 1.000 | 4 | 2009 | 2015 | ||||
|
1 | 0.742 | 0.400 | 12 | 6341779 | synonymous variant | T/C | snv | 0.37 | 0.40 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
6 | 0.752 | 0.240 | 17 | 39895095 | regulatory region variant | A/G | snv | 0.50 | 0.800 | 1.000 | 2 | 2012 | 2012 | ||||
|
7 | 0.752 | 0.360 | 17 | 39884510 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
7 | 0.763 | 0.280 | 17 | 39905943 | missense variant | G/A | snv | 0.40 | 0.35 | 0.700 | 1.000 | 2 | 2012 | 2012 | |||
|
3 | 0.763 | 0.200 | 9 | 114796423 | intron variant | C/T | snv | 0.73 | 0.710 | 1.000 | 1 | 2012 | 2016 | ||||
|
4 | 0.763 | 0.320 | 11 | 64329761 | upstream gene variant | A/G | snv | 0.28 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.776 | 0.360 | 12 | 6330843 | non coding transcript exon variant | T/C | snv | 0.36; 4.0E-06 | 0.38 | 0.800 | 1.000 | 2 | 2011 | 2015 | |||
|
4 | 0.776 | 0.360 | 6 | 32421871 | intergenic variant | A/G | snv | 0.24 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.776 | 0.320 | 7 | 128940626 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 0.790 | 0.240 | 17 | 39820216 | intron variant | C/T | snv | 0.52 | 0.800 | 1.000 | 3 | 2010 | 2017 | ||||
|
3 | 0.790 | 0.120 | 17 | 45846853 | synonymous variant | T/C | snv | 0.15 | 0.14 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 0.790 | 0.200 | 12 | 6337611 | intron variant | G/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.790 | 0.360 | 17 | 39909987 | intron variant | T/C | snv | 0.48 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.790 | 0.240 | 9 | 114804733 | intron variant | C/T | snv | 0.13 | 0.830 | 1.000 | 1 | 2012 | 2019 | ||||
|
2 | 0.790 | 0.200 | 6 | 32690139 | TF binding site variant | T/C | snv | 6.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.807 | 0.360 | 6 | 32689801 | TF binding site variant | T/C | snv | 0.40 | 0.800 | 1.000 | 3 | 2010 | 2015 |