| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.040 | 6 | 43768759 | upstream gene variant | T/C | snv | 0.60 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 |
|
0.700 | 1.000 | 3 | 2015 | 2018 | ||||||||
|
0.827 | 0.160 | 9 | 22081398 | intron variant | G/T | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.807 | 0.080 | 9 | 22056500 | intron variant | G/A | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 13 | 108207498 | 3 prime UTR variant | C/T | snv | 0.12 |
|
0.020 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
1.000 | 0.040 | 14 | 32780875 | intron variant | G/A | snv | 9.3E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.708 | 0.320 | 2 | 100840527 | intron variant | G/A | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.776 | 0.160 | 21 | 33027257 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.080 | 0.625 | 8 | 2008 | 2018 | ||||||||
|
0.790 | 0.200 | 15 | 33866065 | 3 prime UTR variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
0.020 | 1.000 | 2 | 2008 | 2016 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | ||||||||
|
0.882 | 0.040 | 8 | 129465577 | intron variant | C/T | snv | 0.80 |
|
0.700 | 1.000 | 2 | 2009 | 2011 | ||||||||
|
1.000 | 0.040 | 1 | 46278228 | synonymous variant | C/A;T | snv | 4.0E-06; 0.15 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.160 | 9 | 21971019 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 1997 | 1997 | |||||||||
|
1.000 | 0.040 | 10 | 122582793 | missense variant | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.630 | 0.600 | 6 | 88143916 | synonymous variant | C/T | snv | 0.21 | 0.20 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.040 | 1 | 108150714 | intron variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.716 | 0.160 | 10 | 112559621 | intron variant | C/T | snv | 3.1E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.708 | 0.320 | 15 | 60997989 | intron variant | C/T | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 19 | 45352266 | synonymous variant | G/A | snv | 0.28 | 0.26 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||
|
0.807 | 0.200 | 1 | 15506048 | missense variant | T/A;C | snv | 0.53 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 14 | 45073835 | 3 prime UTR variant | T/C | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.742 | 0.160 | 1 | 226064451 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.683 | 0.080 | 1 | 226064434 | missense variant | A/T | snv |
|
0.050 | 0.800 | 5 | 2016 | 2020 |