| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 7 | 50504025 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
10 | 69368539 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
5 | 63961656 | missense variant | C/G;T | snv | 3.2E-04 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
5 | 63961638 | missense variant | T/C | snv | 9.4E-03 | 9.3E-03 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.776 | 0.200 | 20 | 4699875 | missense variant | G/A | snv | 8.0E-03 | 2.2E-03 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.827 | 0.200 | 5 | 63961061 | missense variant | C/A | snv | 3.7E-03 | 3.8E-03 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.716 | 0.200 | 11 | 113412762 | missense variant | G/C | snv | 2.7E-02 | 1.8E-02 |
|
0.010 | 1.000 | 1 | 1996 | 1996 | |||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 226888954 | missense variant | A/G | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
0.724 | 0.160 | 6 | 88150763 | intron variant | T/C | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
18 | 4127583 | intron variant | A/C;T | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.807 | 0.200 | 17 | 30224647 | intron variant | G/A | snv | 0.34 |
|
0.010 | < 0.001 | 1 | 2020 | 2020 | ||||||||
|
0.807 | 0.120 | 7 | 22730530 | intron variant | G/A | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 19 | 1391362 | intron variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.080 | 6 | 151986571 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.701 | 0.200 | 3 | 8760542 | intron variant | G/A | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.120 | 8 | 20178722 | intron variant | T/G | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 5 | 148825489 | 5 prime UTR variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.827 | 0.040 | 3 | 52799203 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.807 | 0.120 | 5 | 1394407 | 3 prime UTR variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.790 | 0.120 | 7 | 147877298 | intron variant | A/G;T | snv |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 4 | 46332192 | intron variant | A/G | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2016 | 2016 |