| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.080 | 14 | 103137232 | 3 prime UTR variant | C/T | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 |
|
0.040 | 1.000 | 4 | 2013 | 2017 | |||||||
|
0.562 | 0.760 | 6 | 31575324 | upstream gene variant | G/A | snv | 4.6E-02 |
|
0.020 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
0.742 | 0.360 | 1 | 223111186 | missense variant | A/G | snv | 0.39 | 0.34 |
|
0.030 | 1.000 | 3 | 2011 | 2019 | |||||||
|
0.882 | 0.120 | 1 | 223138265 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.120 | 1 | 223129809 | intron variant | G/T | snv | 7.2E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.100 | 1.000 | 10 | 2007 | 2019 | ||||||||
|
0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 |
|
0.070 | 1.000 | 7 | 2007 | 2014 | |||||||
|
0.658 | 0.560 | 9 | 117715853 | 3 prime UTR variant | G/C | snv | 0.11 |
|
0.030 | 1.000 | 3 | 2011 | 2014 | ||||||||
|
0.827 | 0.160 | 9 | 117715764 | 3 prime UTR variant | C/A | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.827 | 0.240 | 9 | 117709275 | intron variant | C/A | snv | 9.5E-02 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
0.658 | 0.640 | 9 | 117707776 | intron variant | A/G | snv | 0.62 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.633 | 0.720 | 4 | 153704257 | synonymous variant | T/C | snv | 9.0E-02 | 6.7E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.790 | 0.320 | 4 | 38783103 | upstream gene variant | T/A | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.662 | 0.480 | 4 | 38798089 | missense variant | T/C | snv | 0.38 | 0.44 |
|
0.020 | 1.000 | 2 | 2015 | 2018 | |||||||
|
0.677 | 0.360 | 4 | 38797027 | missense variant | C/A | snv | 0.53 | 0.51 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.080 | 19 | 5559819 | 3 prime UTR variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.160 | 19 | 5562104 | 3 prime UTR variant | G/A | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 19 | 5561065 | 3 prime UTR variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.080 | 5 | 80057163 | intron variant | G/A | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.240 | 15 | 39581120 | 5 prime UTR variant | T/C | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.120 | 9 | 99123789 | intron variant | T/C | snv | 6.5E-02 |
|
0.020 | 1.000 | 2 | 2014 | 2018 | ||||||||
|
0.851 | 0.120 | 9 | 99112121 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 21 | 42351602 | upstream gene variant | A/G | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2013 | 2013 |