| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.716 | 0.400 | 1 | 155236354 | missense variant | T/C | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.658 | 0.520 | 1 | 155235843 | missense variant | T/C;G | snv | 2.3E-03 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv |
|
0.700 | 1.000 | 2 | 2013 | 2014 | |||||||||
|
0.925 | 0.120 | 3 | 193618885 | synonymous variant | G/A | snv | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.160 | 4 | 2831573 | missense variant | G/A;C | snv |
|
0.020 | 1.000 | 2 | 2012 | 2014 | |||||||||
|
0.752 | 0.320 | 4 | 79984831 | frameshift variant | -/G;GG | delins | 1.7E-05 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.200 | 5 | 179836445 | missense variant | C/T | snv | 9.8E-04 | 1.3E-03 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.708 | 0.360 | 5 | 140114480 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.672 | 0.400 | 6 | 42978330 | missense variant | G/A | snv | 3.6E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 7 | 94423065 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.776 | 0.360 | 8 | 118952044 | upstream gene variant | G/A | snv | 0.58 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.120 | 8 | 118911634 | regulatory region variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.882 | 0.200 | 8 | 42472255 | stop gained | G/A;C | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.360 | 9 | 127825225 | splice region variant | A/G | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.360 | 10 | 95637327 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.240 | 11 | 68357673 | missense variant | G/T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.080 | 11 | 68309770 | upstream gene variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.752 | 0.400 | 11 | 68433827 | missense variant | C/T | snv | 0.13 | 0.11 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.851 | 0.160 | 11 | 68406721 | missense variant | G/A;C | snv | 3.8E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.160 | 11 | 46312636 | inframe deletion | AAG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 11 | 44107723 | missense variant | C/T | snv | 6.4E-05 | 2.1E-05 |
|
0.700 | 0 |