| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.120 | 3 | 10141653 | 5 prime UTR variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.120 | 3 | 10141965 | missense variant | C/A;T | snv | 6.5E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.240 | 3 | 10142079 | missense variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.790 | 0.280 | 3 | 10142086 | missense variant | G/A;T | snv |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | |||||||||
|
0.882 | 0.240 | 3 | 10142088 | missense variant | C/T | snv | 2.0E-04 | 3.8E-04 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.776 | 0.320 | 3 | 10142139 | missense variant | T/C | snv | 1.3E-05 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.776 | 0.320 | 3 | 10142181 | missense variant | T/A;C | snv |
|
0.020 | 1.000 | 2 | 1999 | 2003 | |||||||||
|
0.807 | 0.240 | 3 | 10146566 | missense variant | C/A | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.776 | 0.320 | 3 | 10149885 | missense variant | C/G | snv | 2.0E-05 | 4.2E-05 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.882 | 0.240 | 3 | 10149964 | stop lost | G/T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.882 | 0.160 | 12 | 102396074 | 3 prime UTR variant | C/G | snv | 8.9E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.790 | 0.320 | 10 | 103916707 | intron variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.120 | 10 | 103922538 | upstream gene variant | C/T | snv | 0.31 |
|
0.710 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.752 | 0.320 | 10 | 104274733 | 5 prime UTR variant | A/G | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.672 | 0.560 | 10 | 104279427 | missense variant | A/G;T | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 7 | 106861053 | upstream gene variant | A/G | snv | 0.71 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.807 | 0.240 | 4 | 106924637 | missense variant | C/A;T | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.120 | 11 | 108306370 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.160 | 11 | 108486410 | missense variant | G/A | snv | 1.6E-02 | 1.6E-02 |
|
0.710 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.827 | 0.160 | 8 | 109578004 | missense variant | A/G | snv | 4.1E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.742 | 0.320 | 1 | 109737079 | missense variant | C/T | snv | 4.0E-06; 0.35 | 0.26 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.200 | 1 | 109740350 | 5 prime UTR variant | G/T | snv | 0.64 | 0.66 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.120 | 1 | 109909068 | upstream gene variant | T/C | snv | 0.74 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.630 | 0.360 | 4 | 109912954 | 5 prime UTR variant | A/G | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2010 | 2010 |