| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.708 | 0.400 | 3 | 41224646 | missense variant | C/A;G;T | snv |
|
0.820 | 1.000 | 2 | 2016 | 2018 | |||||||||
|
0.701 | 0.200 | 3 | 41224606 | missense variant | G/A;C;T | snv |
|
0.820 | 1.000 | 2 | 1999 | 2009 | |||||||||
|
0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv |
|
0.810 | 1.000 | 1 | 2000 | 2016 | |||||||||
|
0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv |
|
0.810 | 1.000 | 1 | 1999 | 2017 | |||||||||
|
0.763 | 0.240 | 3 | 41224645 | missense variant | T/C;G | snv |
|
0.810 | 1.000 | 1 | 2015 | 2016 | |||||||||
|
0.763 | 0.240 | 3 | 41224634 | missense variant | C/A;T | snv |
|
0.810 | 1.000 | 1 | 2015 | 2016 | |||||||||
|
1.000 | 0.040 | 3 | 41224631 | missense variant | C/G;T | snv |
|
0.710 | 1.000 | 1 | 2011 | 2014 | |||||||||
|
0.724 | 0.200 | 3 | 41224612 | missense variant | G/A;C | snv |
|
0.710 | 1.000 | 1 | 2009 | 2014 | |||||||||
|
0.701 | 0.200 | 3 | 41224606 | missense variant | G/A;C;T | snv |
|
0.710 | 1.000 | 1 | 2009 | 2014 | |||||||||
|
0.695 | 0.240 | 3 | 41224613 | missense variant | G/A;C;T | snv |
|
0.710 | 1.000 | 1 | 2014 | 2016 | |||||||||
|
0.695 | 0.240 | 3 | 41224613 | missense variant | G/A;C;T | snv |
|
0.710 | 1.000 | 1 | 2009 | 2014 | |||||||||
|
0.708 | 0.400 | 3 | 41224646 | missense variant | C/A;G;T | snv |
|
0.090 | 1.000 | 9 | 2013 | 2019 | |||||||||
|
0.724 | 0.280 | 3 | 41224633 | missense variant | A/C;G;T | snv |
|
0.070 | 1.000 | 7 | 1998 | 2019 | |||||||||
|
0.724 | 0.280 | 3 | 41224633 | missense variant | A/C;G;T | snv |
|
0.060 | 1.000 | 6 | 2015 | 2019 | |||||||||
|
0.763 | 0.240 | 3 | 41224645 | missense variant | T/C;G | snv |
|
0.050 | 1.000 | 5 | 1999 | 2019 | |||||||||
|
0.708 | 0.400 | 3 | 41224646 | missense variant | C/A;G;T | snv |
|
0.050 | 1.000 | 5 | 2002 | 2019 | |||||||||
|
0.742 | 0.200 | 3 | 41224621 | missense variant | T/C;G | snv |
|
0.030 | 1.000 | 3 | 2007 | 2012 | |||||||||
|
0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv |
|
0.030 | 1.000 | 3 | 2011 | 2019 | |||||||||
|
0.724 | 0.280 | 3 | 41224633 | missense variant | A/C;G;T | snv |
|
0.020 | 1.000 | 2 | 2012 | 2013 | |||||||||
|
0.925 | 0.080 | 3 | 41225816 | synonymous variant | G/A | snv | 3.2E-05 | 4.9E-05 |
|
0.020 | 1.000 | 2 | 2008 | 2014 | |||||||
|
0.882 | 0.200 | 3 | 41198686 | 5 prime UTR variant | G/A | snv | 0.40 |
|
0.020 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.742 | 0.320 | 3 | 41237949 | non coding transcript exon variant | A/G | snv | 0.19 |
|
0.020 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.882 | 0.080 | 3 | 41233777 | frameshift variant | -/C | ins |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.040 | 3 | 41234286 | stop gained | C/T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.080 | 3 | 41238542 | intron variant | A/G | snv | 3.7E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 |