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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
87 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 0.020 | 1.000 | 2 | 2014 | 2019 | |||
|
19 | 0.716 | 0.360 | 6 | 52187772 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
105 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
64 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
81 | 0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
56 | 0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
7 | 0.807 | 0.280 | 13 | 43883789 | missense variant | A/G | snv | 0.28 | 0.27 | 0.820 | 1.000 | 4 | 2009 | 2018 | |||
|
1 | 1.000 | 0.040 | 17 | 45230816 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.080 | 16 | 50704069 | intron variant | A/G | snv | 0.68 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.030 | 1.000 | 3 | 2015 | 2017 | |||
|
2 | 0.925 | 0.040 | 10 | 58395360 | 3 prime UTR variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.120 | 10 | 58385582 | missense variant | G/C | snv | 9.6E-02 | 7.6E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 1 | 27371297 | intron variant | -/TATTTGGCC | ins | 0.32 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
40 | 0.627 | 0.680 | 4 | 153703504 | synonymous variant | T/C | snv | 0.40 | 0.48 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 1 | 27370346 | intron variant | G/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 1 | 27373180 | frameshift variant | G/- | delins | 1.6E-02 | 1.8E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 15 | 89329018 | synonymous variant | C/T | snv | 4.2E-03 | 2.7E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 13 | 43859494 | intron variant | C/A;T | snv | 0.710 | 1.000 | 3 | 2009 | 2016 | |||||
|
10 | 0.763 | 0.200 | 9 | 114796423 | intron variant | C/T | snv | 0.73 | 0.810 | 1.000 | 3 | 2009 | 2016 | ||||
|
1 | 1.000 | 0.040 | 13 | 43904864 | intron variant | A/G | snv | 0.11 | 0.710 | 1.000 | 2 | 2009 | 2016 | ||||
|
2 | 0.925 | 0.040 | 6 | 146597814 | intron variant | G/A | snv | 7.7E-02 | 0.810 | 1.000 | 2 | 2011 | 2016 | ||||
|
3 | 0.925 | 0.040 | 1 | 67131436 | intron variant | G/A | snv | 0.83 | 0.810 | 1.000 | 2 | 2011 | 2016 | ||||
|
1 | 1.000 | 0.040 | 13 | 43823679 | downstream gene variant | T/C | snv | 0.53 | 0.710 | 1.000 | 2 | 2009 | 2016 |