| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | 1 | 156135271 | missense variant | A/G | snv | 4.8E-04 | 1.6E-04 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.200 | 1 | 156138593 | missense variant | G/A | snv | 2.1E-04 | 7.7E-04 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 156115240 | missense variant | A/G | snv | 2.5E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.732 | 0.320 | 1 | 156138697 | synonymous variant | C/T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.160 | 8 | 19966981 | 3 prime UTR variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.925 | 0.160 | 8 | 19959423 | intron variant | T/C | snv | 0.24 | 0.26 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.732 | 0.440 | 8 | 19962213 | stop gained | C/G | snv | 9.2E-02 | 9.0E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.752 | 0.400 | 2 | 135851076 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.807 | 0.320 | 4 | 186555751 | upstream gene variant | T/C | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.776 | 0.400 | 11 | 92975544 | intron variant | C/G | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 5 | 96429259 | missense variant | C/A;T | snv | 4.0E-06; 2.1E-03 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
0.040 | 0.750 | 4 | 2010 | 2016 | |||||||
|
0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 |
|
0.020 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
22 | 46216775 | intron variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
22 | 46226097 | intron variant | T/C | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.752 | 0.320 | 6 | 35411001 | 5 prime UTR variant | C/T | snv | 0.78 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
0.020 | 1.000 | 2 | 2007 | 2014 | |||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.667 | 0.440 | 4 | 23814039 | missense variant | C/T | snv | 0.31 | 0.26 |
|
0.020 | 1.000 | 2 | 2006 | 2018 | |||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.120 | 10 | 62655424 | missense variant | A/C;G | snv | 0.80 |
|
0.010 | 1.000 | 1 | 2014 | 2014 |