| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.200 | 17 | 43057062 | frameshift variant | -/G | delins | 1.8E-04 |
|
0.710 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 17 | 43093956 | frameshift variant | A/-;AA | delins |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.827 | 0.160 | 17 | 43104197 | synonymous variant | A/C | snv | 8.0E-06 | 4.2E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.080 | 17 | 43051093 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.080 | 17 | 43063912 | missense variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.200 | 17 | 43045761 | missense variant | A/C;G | snv |
|
0.710 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 |
|
0.870 | 1.000 | 7 | 2004 | 2019 | ||||||||
|
0.851 | 0.200 | 17 | 43104260 | stop gained | A/C;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.200 | 17 | 43115745 | missense variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.827 | 0.200 | 17 | 43049188 | missense variant | A/C;G;T | snv | 8.0E-06 |
|
0.710 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.790 | 0.280 | 17 | 43051071 | missense variant | A/C;T | snv | 1.2E-05 |
|
0.710 | 1.000 | 1 | 1994 | 2017 | ||||||||
|
0.925 | 0.080 | 17 | 43094073 | missense variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.925 | 0.080 | 17 | 43106513 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.080 | 17 | 43093409 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.925 | 0.080 | 17 | 43094258 | missense variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.925 | 0.080 | 17 | 43067643 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.080 | 17 | 43093220 | synonymous variant | A/G | snv | 0.35 | 0.29 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.080 | 17 | 43071031 | missense variant | A/G | snv | 1.5E-03 | 9.6E-04 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.925 | 0.080 | 17 | 43124091 | synonymous variant | A/G | snv | 8.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.827 | 0.160 | 17 | 43099853 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.925 | 0.080 | 17 | 43099867 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.080 | 17 | 43094075 | missense variant | A/G;T | snv | 2.8E-04; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.851 | 0.200 | 17 | 43106480 | stop gained | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 17 | 43063340 | missense variant | A/T | snv |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
0.925 | 0.080 | 17 | 43047699 | stop gained | A/T | snv | 9.9E-05 | 2.0E-04 |
|
0.710 | 1.000 | 1 | 1994 | 2017 |