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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 1 | 36086984 | missense variant | C/G;T | snv | 4.0E-06; 7.0E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.040 | 8 | 27544615 | 3 prime UTR variant | T/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.040 | 16 | 4786006 | missense variant | G/A | snv | 1.2E-04 | 5.6E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.882 | 0.040 | 16 | 4783690 | missense variant | C/G;T | snv | 2.4E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.040 | 6 | 36012301 | missense variant | C/T | snv | 3.1E-04 | 3.0E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 11 | 66026326 | synonymous variant | G/A | snv | 0.25 | 0.20 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
111 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.040 | 1 | 36086835 | missense variant | G/A;T | snv | 4.3E-04; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 20 | 45208496 | missense variant | G/A | snv | 1.0E-04 | 1.3E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.925 | 0.040 | 7 | 32360046 | intron variant | G/A | snv | 0.57 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.807 | 0.040 | 1 | 2461209 | intron variant | G/C | snv | 0.64 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.240 | 9 | 125241510 | upstream gene variant | CC/-;C;CCC;CCCC | delins | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | X | 43658116 | intron variant | A/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 5 | 180316819 | missense variant | C/T | snv | 5.3E-04 | 4.6E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.040 | 1 | 167880125 | frameshift variant | GT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 |