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 | 183579857 | intron variant | A/G | snv | 0.12 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
32 | 0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.040 | 8 | 130240512 | intron variant | A/G | snv | 0.37 | 0.040 | 0.250 | 4 | 2015 | 2018 | ||||
|
3 | 0.925 | 0.120 | 10 | 21003994 | intron variant | C/T | snv | 3.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 159029494 | intron variant | C/T | snv | 0.65 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.040 | 11 | 32342070 | intron variant | C/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.040 | 11 | 32343884 | upstream gene variant | G/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 81752132 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.851 | 0.120 | 12 | 21176879 | missense variant | C/A;T | snv | 0.11; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.790 | 0.160 | 4 | 38774870 | missense variant | T/G | snv | 0.42 | 0.41 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 16 | 85917080 | intron variant | A/G | snv | 0.12 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 11 | 612967 | intron variant | A/G | snv | 0.25 | 0.33 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
64 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.882 | 0.040 | 12 | 112911065 | missense variant | G/A;C | snv | 0.57 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
13 | 0.732 | 0.360 | 1 | 169707345 | missense variant | A/G | snv | 0.21 | 0.22 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.080 | 2 | 230177560 | missense variant | A/G | snv | 0.42 | 0.40 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 1.000 | 0.040 | 4 | 38778850 | intron variant | T/C | snv | 0.13 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 2 | 230212961 | missense variant | G/A | snv | 0.10 | 7.4E-02 | 0.020 | 1.000 | 2 | 2017 | 2018 | |||
|
1 | 1.000 | 0.040 | 5 | 35873503 | missense variant | G/A;T | snv | 9.5E-03; 4.0E-06 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.040 | 19 | 18075808 | missense variant | T/C | snv | 0.28 | 0.25 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 0.925 | 0.040 | 19 | 18063921 | missense variant | C/T | snv | 1.1E-02 | 5.7E-03 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
13 | 0.763 | 0.200 | 2 | 101994530 | intron variant | T/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 8 | 130177997 | intron variant | C/T | snv | 0.61 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 19 | 10338932 | synonymous variant | C/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 5 | 25323598 | intron variant | G/A | snv | 0.70 | 0.700 | 1.000 | 1 | 2017 | 2017 |