Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 6 | 33685334 | intron variant | T/A;C | snv | 0.92 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.240 | 19 | 10631494 | missense variant | A/G | snv | 0.80 | 0.83 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 1 | 192575969 | non coding transcript exon variant | G/A | snv | 0.74 | 0.66 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.763 | 0.480 | 17 | 42329511 | intron variant | G/A;C;T | snv | 2.8E-05; 0.59; 1.6E-05 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 17 | 18307496 | 3 prime UTR variant | T/G | snv | 0.45 | 0.73 |
|
0.710 | 1.000 | 1 | 2016 | 2019 | |||||||
|
0.851 | 0.240 | 12 | 57768956 | missense variant | A/G | snv | 0.38 | 0.33 |
|
0.840 | 0.800 | 1 | 2009 | 2019 | |||||||
|
0.827 | 0.240 | 3 | 169800667 | missense variant | T/C;G | snv | 0.37; 1.8E-04 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.776 | 0.360 | 12 | 6330843 | non coding transcript exon variant | T/C | snv | 0.36; 4.0E-06 | 0.38 |
|
0.880 | 1.000 | 4 | 2009 | 2019 | |||||||
|
0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 19 | 49365794 | missense variant | T/G | snv | 0.29 | 0.26 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 19 | 18193890 | missense variant | A/G;T | snv | 0.24; 4.0E-06 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.683 | 0.560 | 5 | 35874473 | missense variant | C/T | snv | 0.23 | 0.21 |
|
0.900 | 0.909 | 2 | 2007 | 2018 | |||||||
|
0.925 | 0.160 | 19 | 18175134 | missense variant | G/A | snv | 0.23 | 0.24 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 20 | 63742630 | non coding transcript exon variant | G/A | snv | 0.23 | 0.16 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.701 | 0.400 | 21 | 33415005 | missense variant | A/G | snv | 0.20 | 0.18 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 1 | 92607671 | missense variant | C/A | snv | 0.20 | 0.20 |
|
0.710 | 1.000 | 1 | 2010 | 2016 | |||||||
|
0.882 | 0.200 | 3 | 119503609 | stop lost | G/C | snv | 0.18 | 0.18 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.160 | 19 | 12702869 | missense variant | T/C;G | snv | 4.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 19 | 12035555 | splice region variant | T/C | snv | 4.0E-02 | 7.3E-02 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.667 | 0.400 | 19 | 10352442 | missense variant | G/C | snv | 2.7E-02 | 2.8E-02 |
|
0.730 | 1.000 | 1 | 2010 | 2019 | |||||||
|
0.882 | 0.200 | 1 | 116561593 | intron variant | A/G | snv | 0.19 |
|
0.820 | 1.000 | 3 | 2009 | 2018 | ||||||||
|
0.807 | 0.240 | 6 | 32445274 | downstream gene variant | A/G | snv | 0.90 |
|
0.890 | 1.000 | 3 | 2007 | 2018 | ||||||||
|
0.925 | 0.120 | 19 | 6668961 | intron variant | C/G;T | snv |
|
0.810 | 1.000 | 2 | 2011 | 2013 | |||||||||
|
0.882 | 0.160 | 6 | 135418217 | intron variant | C/A | snv | 0.28 |
|
0.810 | 1.000 | 2 | 2011 | 2018 | ||||||||
|
0.851 | 0.240 | 10 | 79300560 | intron variant | C/A | snv | 0.27 |
|
0.800 | 1.000 | 2 | 2011 | 2019 |