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 | 0.120 | 3 | 10148783 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.120 | 7 | 37907501 | missense variant | C/T | snv | 0.20 | 0.24 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.120 | 1 | 109930334 | 3 prime UTR variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.120 | 8 | 23019226 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.120 | 5 | 132678417 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | 9 | 8389364 | synonymous variant | C/G;T | snv | 0.50; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 11 | 11968352 | intron variant | T/C | snv | 0.83 | 0.85 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.120 | 6 | 34085889 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.120 | 6 | 39854343 | intron variant | A/G | snv | 0.61 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 1.000 | 0.120 | 3 | 11358775 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.120 | 9 | 113391072 | intron variant | T/C | snv | 0.59 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 9 | 134443675 | downstream gene variant | G/A | snv | 0.75 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.120 | 1 | 109909068 | upstream gene variant | T/C | snv | 0.74 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 2 | 25312674 | intron variant | T/C | snv | 0.42 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 3 | 169764347 | downstream gene variant | G/A | snv | 1.4E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.120 | 11 | 119317205 | intron variant | C/A;T | snv | 7.1E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 1 | 50441766 | intron variant | T/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 12 | 124836304 | intron variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 16 | 27332642 | intron variant | T/C | snv | 0.29 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 14 | 72812712 | intron variant | T/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.120 | 2 | 68382602 | missense variant | G/A;C | snv | 4.8E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
3 | 0.882 | 0.120 | 11 | 108306370 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.120 | 7 | 106861053 | upstream gene variant | A/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | X | 149714188 | non coding transcript exon variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.120 | X | 149711150 | intron variant | A/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 |