| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.100 | 0.813 | 16 | 2003 | 2018 | |||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.100 | 0.933 | 45 | 2002 | 2019 | ||||||||
|
0.807 | 0.160 | 1 | 241879243 | missense variant | A/G | snv | 0.66 | 0.66 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.080 | 6 | 31166166 | 5 prime UTR variant | C/A | snv | 0.65 | 0.69 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.080 | 4 | 184631944 | splice region variant | T/G | snv | 0.64 | 0.73 |
|
0.020 | 1.000 | 2 | 2013 | 2018 | |||||||
|
1.000 | 0.040 | 14 | 103135941 | missense variant | A/G | snv | 0.64 | 0.59 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.160 | 3 | 157437525 | missense variant | C/A | snv | 0.64 | 0.64 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 |
|
0.030 | 1.000 | 3 | 2008 | 2014 | |||||||
|
0.763 | 0.400 | 2 | 241851121 | synonymous variant | A/C;G | snv | 1.6E-04; 0.63 |
|
0.040 | 1.000 | 4 | 2016 | 2019 | ||||||||
|
0.689 | 0.360 | 17 | 744946 | missense variant | G/A;C | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.807 | 0.080 | 8 | 18400806 | missense variant | G/A;T | snv | 0.62; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 7 | 20141094 | missense variant | C/A;G | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.776 | 0.280 | 16 | 346264 | synonymous variant | A/G | snv | 0.61 | 0.69 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.827 | 0.080 | 1 | 102914362 | missense variant | G/A | snv | 0.61 | 0.49 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.827 | 0.120 | 17 | 61685986 | missense variant | A/G | snv | 0.60 | 0.61 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 17 | 65537650 | synonymous variant | G/A | snv | 0.60; 5.4E-06 | 0.53 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.605 | 0.640 | 2 | 240456086 | non coding transcript exon variant | T/A;C | snv | 0.59 |
|
0.100 | 0.545 | 11 | 2011 | 2019 | ||||||||
|
0.732 | 0.240 | 1 | 155192276 | splice acceptor variant | C/A;T | snv | 0.59 |
|
0.030 | 1.000 | 3 | 2014 | 2018 | ||||||||
|
0.677 | 0.480 | 19 | 45365051 | synonymous variant | T/G | snv | 0.58 | 0.65 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.776 | 0.400 | 19 | 1106616 | stop gained | T/A;C | snv | 4.2E-06; 0.58 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.752 | 0.320 | 4 | 69098620 | missense variant | T/C | snv | 0.56 | 0.57 |
|
0.020 | 1.000 | 2 | 2002 | 2018 | |||||||
|
0.708 | 0.440 | 20 | 32786453 | intron variant | C/T | snv | 0.56 | 0.53 |
|
0.030 | 1.000 | 3 | 2011 | 2015 | |||||||
|
0.925 | 0.120 | 8 | 11849072 | synonymous variant | T/C;G | snv | 3.5E-02; 0.56 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.763 | 0.160 | 17 | 42554888 | missense variant | G/A;C;T | snv | 0.56; 9.0E-05; 1.4E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 |
|
0.010 | 1.000 | 1 | 2010 | 2010 |