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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.200 | 17 | 51152947 | upstream gene variant | T/C | snv | 0.39 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.752 | 0.240 | 17 | 51153539 | 5 prime UTR variant | C/T | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 8 | 6444626 | frameshift variant | AAGAAATATTGCA/- | delins | 2.3E-04 | 1.0E-04 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.160 | 21 | 36146408 | missense variant | G/A | snv | 0.37 | 0.39 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 16 | 78986883 | intron variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.790 | 0.160 | 2 | 38075270 | missense variant | A/C | snv | 4.3E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.732 | 0.520 | 9 | 117702447 | upstream gene variant | G/A | snv | 0.52 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.776 | 0.120 | 11 | 533873 | missense variant | CT/AC;TC | mnv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.627 | 0.520 | 11 | 533874 | missense variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.653 | 0.600 | 2 | 218395009 | missense variant | G/A;C | snv | 4.9E-02; 4.1E-06 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 21 | 26921481 | 3 prime UTR variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 15 | 22225320 | mature miRNA variant | C/T | snv | 4.8E-02 | 0.14 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.200 | 1 | 22784501 | missense variant | G/A | snv | 2.4E-05 | 3.5E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
7 | 127686719 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.627 | 0.400 | 17 | 7673751 | missense variant | C/A;G;T | snv | 1.6E-04 | 1.3E-04 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.040 | 1 | 169731361 | intron variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.649 | 0.320 | 5 | 1295234 | upstream gene variant | A/G | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.724 | 0.480 | X | 49260888 | intron variant | G/A | snv | 9.6E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.763 | 0.360 | 11 | 116837697 | 5 prime UTR variant | C/T | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 15 | 100541858 | intron variant | A/C | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.763 | 0.240 | 9 | 125241745 | non coding transcript exon variant | T/C | snv | 0.72 |
|
0.010 | 1.000 | 1 | 2011 | 2011 |