| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.030 | 0.667 | 3 | 2009 | 2014 | ||||||||
|
0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 |
|
0.020 | 1.000 | 2 | 2010 | 2020 | |||||||
|
0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.160 | 1 | 34794360 | missense variant | A/C;G;T | snv | 0.61 | 0.69 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.851 | 0.160 | 20 | 35174686 | non coding transcript exon variant | C/T | snv | 0.55 | 0.62 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.827 | 0.160 | 20 | 38318446 | missense variant | G/A;C | snv | 0.46 |
|
0.020 | 1.000 | 2 | 2001 | 2014 | ||||||||
|
0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 |
|
0.020 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.627 | 0.680 | 4 | 153703504 | synonymous variant | T/C | snv | 0.40 | 0.48 |
|
0.020 | 1.000 | 2 | 2010 | 2011 | |||||||
|
0.732 | 0.360 | 8 | 6877909 | 5 prime UTR variant | C/T | snv | 0.36 | 0.41 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.724 | 0.400 | 3 | 122119472 | missense variant | G/A | snv | 0.30 | 0.25 |
|
0.020 | 0.500 | 2 | 2018 | 2019 | |||||||
|
0.641 | 0.520 | 10 | 100975021 | mature miRNA variant | C/G | snv | 0.27 | 0.27 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | 7 | 30446094 | intron variant | A/C;G | snv | 1.2E-05; 0.25; 5.3E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.695 | 0.440 | 1 | 196740644 | missense variant | G/T | snv | 0.20 | 0.15 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.658 | 0.480 | 17 | 27769571 | missense variant | G/A | snv | 0.18 | 0.17 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.120 | 20 | 45175881 | missense variant | A/C | snv | 0.16 | 0.16 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.732 | 0.280 | 16 | 89919746 | missense variant | G/A | snv | 0.15 | 8.3E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.662 | 0.640 | 10 | 52771475 | missense variant | C/T | snv | 0.14 | 0.11 |
|
0.020 | 1.000 | 2 | 2014 | 2015 | |||||||
|
0.763 | 0.280 | 6 | 41282728 | missense variant | T/A | snv | 0.13 | 0.12 |
|
0.020 | 0.500 | 2 | 2012 | 2019 | |||||||
|
0.672 | 0.520 | 11 | 126292948 | missense variant | C/T | snv | 0.12 | 0.11 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.080 | 11 | 126293169 | 3 prime UTR variant | A/G | snv | 0.12 | 0.13 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 |
|
0.050 | 1.000 | 5 | 2008 | 2017 |