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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
20 | 0.701 | 0.320 | 3 | 120094435 | upstream gene variant | A/G | snv | 0.51 | 0.020 | 1.000 | 2 | 2012 | 2018 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.020 | 1.000 | 2 | 2017 | 2019 | |||
|
40 | 0.645 | 0.200 | 5 | 63962738 | intron variant | C/G | snv | 0.49 | 0.020 | 1.000 | 2 | 2008 | 2011 | ||||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
3 | 0.925 | 0.040 | 9 | 84678542 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 1 | 88937277 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 5 | 149657413 | regulatory region variant | T/C | snv | 9.8E-02 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
24 | 0.716 | 0.200 | 11 | 113412762 | missense variant | G/C | snv | 2.7E-02 | 1.8E-02 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
1 | 1.000 | 0.040 | 13 | 46873101 | intron variant | G/A | snv | 0.49 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
72 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
23 | 0.732 | 0.160 | 6 | 77462543 | synonymous variant | C/G | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.040 | 5 | 132074826 | missense variant | A/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
11 | 0.807 | 0.080 | 13 | 46837850 | intron variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2010 | 2010 |