| 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 | 0.160 | 17 | 43044391 | 3 prime UTR variant | G/A | snv | 0.34 | 0.31 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.807 | 0.120 | 17 | 43045257 | 3 prime UTR variant | C/A | snv | 0.34 | 0.29 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.080 | 17 | 43045711 | stop gained | G/C;T | snv |
|
0.010 | < 0.001 | 1 | 2002 | 2002 | |||||||||
|
1.000 | 0.080 | 17 | 43045746 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.925 | 0.080 | 17 | 43045748 | missense variant | C/G;T | snv |
|
0.010 | < 0.001 | 1 | 2007 | 2007 | |||||||||
|
0.851 | 0.200 | 17 | 43045759 | stop gained | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.200 | 17 | 43045760 | stop gained | C/T | 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 | |||||||||
|
0.882 | 0.080 | 17 | 43045769 | missense variant | G/A | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.851 | 0.160 | 17 | 43047676 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.925 | 0.080 | 17 | 43047699 | stop gained | A/T | snv | 9.9E-05 | 2.0E-04 |
|
0.710 | 1.000 | 1 | 1994 | 2017 | |||||||
|
0.925 | 0.080 | 17 | 43049149 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.827 | 0.200 | 17 | 43049188 | missense variant | A/C;G;T | snv | 8.0E-06 |
|
0.710 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.080 | 17 | 43051063 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.790 | 0.280 | 17 | 43051071 | missense variant | A/C;T | snv | 1.2E-05 |
|
0.710 | 1.000 | 1 | 1994 | 2017 | ||||||||
|
0.851 | 0.200 | 17 | 43051086 | missense variant | C/A;G | snv |
|
0.710 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.080 | 17 | 43051093 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.827 | 0.200 | 17 | 43057062 | frameshift variant | -/G | delins | 1.8E-04 |
|
0.710 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 17 | 43057092 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.080 | 17 | 43063340 | missense variant | A/T | snv |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
0.807 | 0.200 | 17 | 43063903 | missense variant | G/A;C;T | snv | 2.8E-05; 4.0E-06; 2.0E-05 |
|
0.810 | 0.833 | 1 | 2002 | 2014 | ||||||||
|
0.925 | 0.080 | 17 | 43063912 | missense variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.763 | 0.280 | 17 | 43063930 | missense variant | C/A;G;T | snv | 2.4E-05 |
|
0.730 | 1.000 | 3 | 1994 | 2019 | ||||||||
|
0.763 | 0.280 | 17 | 43063931 | missense variant | G/A;T | snv | 2.4E-05; 8.0E-06 |
|
0.810 | 1.000 | 1 | 2004 | 2014 | ||||||||
|
0.882 | 0.080 | 17 | 43063940 | missense variant | C/A;G;T | snv |
|
0.020 | 1.000 | 2 | 2003 | 2006 |