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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 |
|
0.880 | 1.000 | 5 | 2009 | 2016 | ||||||||
|
0.807 | 0.080 | 3 | 189665394 | intron variant | C/T | snv | 0.38 |
|
0.840 | 1.000 | 2 | 2010 | 2014 | ||||||||
|
1.000 | 0.040 | 17 | 67902693 | intron variant | G/A | snv | 0.22 |
|
0.810 | 1.000 | 3 | 2012 | 2019 | ||||||||
|
1.000 | 0.040 | 6 | 41522750 | intron variant | A/G | snv | 0.84 |
|
0.810 | 1.000 | 2 | 2012 | 2016 | ||||||||
|
0.724 | 0.240 | 5 | 1287079 | 3 prime UTR variant | G/A | snv | 0.63 |
|
0.810 | 1.000 | 2 | 2012 | 2016 | ||||||||
|
0.776 | 0.360 | 6 | 32400310 | intron variant | T/C | snv | 0.25 |
|
0.810 | 1.000 | 2 | 2012 | 2017 | ||||||||
|
0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 |
|
0.810 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 |
|
0.810 | 1.000 | 1 | 2009 | 2014 | |||||||
|
0.763 | 0.320 | 5 | 1342599 | intron variant | C/A | snv | 0.41 |
|
0.810 | 1.000 | 1 | 2009 | 2014 | ||||||||
|
0.882 | 0.120 | 1 | 78157942 | regulatory region variant | C/T | snv | 7.8E-02 |
|
0.800 | 1.000 | 2 | 2009 | 2017 | ||||||||
|
1.000 | 0.040 | 4 | 65404419 | missense variant | C/T | snv |
|
0.800 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 1 | 2008 | 2019 | ||||||||
|
0.716 | 0.440 | 6 | 31652743 | intron variant | T/G | snv | 7.1E-02 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.790 | 0.240 | 6 | 28808340 | intergenic variant | G/A | snv | 7.2E-02 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
0.730 | 1.000 | 2 | 2014 | 2019 | |||||||||
|
0.683 | 0.400 | 21 | 43104346 | missense variant | G/A;T | snv | 8.0E-06 |
|
0.730 | 0.750 | 1 | 2016 | 2019 | ||||||||
|
0.677 | 0.400 | 7 | 140753354 | missense variant | T/A;C;G | snv |
|
0.720 | 1.000 | 1 | 2016 | 2018 | |||||||||
|
0.807 | 0.120 | 7 | 55174014 | missense variant | G/A;C;T | snv |
|
0.720 | 1.000 | 1 | 2016 | 2018 | |||||||||
|
0.763 | 0.200 | 17 | 39711955 | missense variant | C/A;T | snv |
|
0.710 | 1.000 | 1 | 2016 | 2018 | |||||||||
|
0.742 | 0.360 | 17 | 7673800 | missense variant | C/A;G | snv |
|
0.710 | 1.000 | 1 | 2015 | 2016 | |||||||||
|
0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.710 | 1.000 | 1 | 2016 | 2017 | ||||||||
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.710 | 1.000 | 1 | 2016 | 2017 | ||||||||
|
0.724 | 0.160 | 7 | 55191831 | missense variant | T/A;C;G | snv |
|
0.710 | 1.000 | 1 | 2016 | 2020 | |||||||||
|
0.790 | 0.160 | 15 | 78606381 | intron variant | C/A;T | snv |
|
0.710 | 1.000 | 1 | 2009 | 2014 | |||||||||
|
0.925 | 0.080 | 3 | 189639813 | intron variant | T/C | snv | 0.45 |
|
0.710 | 1.000 | 1 | 2014 | 2014 |