| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 |
|
0.040 | 0.750 | 4 | 2016 | 2019 | |||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.040 | 0.750 | 4 | 2007 | 2016 | ||||||||
|
0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 |
|
0.030 | 1.000 | 3 | 2014 | 2019 | ||||||||
|
0.732 | 0.440 | 1 | 161674008 | missense variant | T/C | snv | 0.16 | 0.19 |
|
0.020 | 0.500 | 2 | 2016 | 2019 | |||||||
|
0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2015 | 2019 | |||||||
|
0.716 | 0.360 | 6 | 52187772 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2012 | 2015 | |||||||
|
0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 |
|
0.020 | 1.000 | 2 | 2013 | 2014 | ||||||||
|
0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 |
|
0.020 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 |
|
0.020 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 |
|
0.020 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.581 | 0.680 | 16 | 27363079 | missense variant | A/G | snv | 0.25 | 0.36 |
|
0.020 | < 0.001 | 2 | 2005 | 2011 | |||||||
|
0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 |
|
0.020 | 1.000 | 2 | 2015 | 2019 | |||||||
|
0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 |
|
0.020 | 0.500 | 2 | 2015 | 2019 | ||||||||
|
0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 |
|
0.020 | 0.500 | 2 | 2007 | 2007 | |||||||
|
0.925 | 0.040 | 2 | 8802974 | stop gained | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 19 | 51693235 | non coding transcript exon variant | G/A;C | snv | 2.6E-03; 5.5E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.160 | 1 | 100718269 | upstream gene variant | T/C | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 1 | 109923844 | missense variant | T/C | snv | 0.38 | 0.39 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.040 | 12 | 106111556 | intron variant | T/G | snv | 0.28 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
0.776 | 0.360 | 11 | 102725749 | intron variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.160 | 4 | 184649399 | 5 prime UTR variant | T/C | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.742 | 0.360 | 8 | 6877877 | 5 prime UTR variant | C/T | snv | 0.43 | 0.40 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||
|
0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 1 | 202159420 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |