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 | 0.120 | 12 | 102855313 | missense variant | C/G;T | snv | 2.0E-05; 1.6E-05 |
|
0.800 | 1.000 | 52 | 1991 | 2016 | ||||||||
|
1.000 | 0.120 | 12 | 102852935 | missense variant | C/A;T | snv | 4.0E-06; 1.7E-04 |
|
0.800 | 1.000 | 51 | 1991 | 2015 | ||||||||
|
1.000 | 0.120 | 12 | 102912842 | missense variant | G/C | snv | 9.5E-05 | 9.1E-05 |
|
0.800 | 1.000 | 50 | 1975 | 2015 | |||||||
|
1.000 | 0.120 | 12 | 102894883 | missense variant | T/A | snv | 4.8E-05 | 7.0E-05 |
|
0.810 | 1.000 | 47 | 1991 | 2015 | |||||||
|
1.000 | 0.120 | 12 | 102843683 | missense variant | C/G;T | snv | 8.4E-05 |
|
0.820 | 1.000 | 46 | 1991 | 2015 | ||||||||
|
1.000 | 0.120 | 12 | 102852929 | missense variant | C/A;T | snv | 7.6E-05 |
|
0.810 | 1.000 | 45 | 1991 | 2018 | ||||||||
|
1.000 | 0.120 | 12 | 102844359 | missense variant | G/C | snv | 1.0E-04 | 1.3E-04 |
|
0.810 | 1.000 | 45 | 1991 | 2015 | |||||||
|
1.000 | 0.120 | 12 | 102852912 | missense variant | G/A | snv | 4.0E-05 | 2.8E-05 |
|
0.800 | 1.000 | 42 | 1991 | 2015 | |||||||
|
0.925 | 0.120 | 12 | 102912794 | missense variant | A/C | snv | 1.7E-04 | 2.2E-04 |
|
0.810 | 1.000 | 41 | 1991 | 2018 | |||||||
|
1.000 | 0.120 | 12 | 102877469 | missense variant | T/A | snv | 6.4E-05 | 9.1E-05 |
|
0.800 | 1.000 | 40 | 1991 | 2016 | |||||||
|
1.000 | 0.120 | 12 | 102844356 | missense variant | A/C;G | snv | 6.8E-05 |
|
0.820 | 1.000 | 40 | 1991 | 2016 | ||||||||
|
0.925 | 0.120 | 12 | 102840507 | missense variant | G/A | snv | 6.0E-04 | 5.6E-04 |
|
0.820 | 1.000 | 39 | 1993 | 2015 | |||||||
|
1.000 | 0.120 | 12 | 102843748 | missense variant | G/T | snv |
|
0.800 | 1.000 | 39 | 1991 | 2015 | |||||||||
|
1.000 | 0.120 | 12 | 102846938 | missense variant | G/A;T | snv | 1.6E-05; 4.0E-06 |
|
0.800 | 1.000 | 39 | 1991 | 2016 | ||||||||
|
1.000 | 0.120 | 12 | 102852917 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 38 | 1991 | 2015 | ||||||||
|
1.000 | 0.120 | 12 | 102843688 | missense variant | T/C | snv | 2.0E-05 | 2.8E-05 |
|
0.800 | 1.000 | 38 | 1991 | 2016 | |||||||
|
1.000 | 0.120 | 12 | 102846932 | missense variant | A/G | snv | 2.0E-05 | 1.4E-05 |
|
0.800 | 1.000 | 38 | 1988 | 2014 | |||||||
|
0.882 | 0.240 | 12 | 102894894 | missense variant | T/C | snv | 8.0E-06 |
|
0.800 | 1.000 | 37 | 1991 | 2015 | ||||||||
|
1.000 | 0.120 | 12 | 102866599 | missense variant | C/G;T | snv | 2.0E-04 |
|
0.800 | 1.000 | 37 | 1991 | 2019 | ||||||||
|
0.925 | 0.120 | 12 | 102851709 | missense variant | C/T | snv | 4.0E-06 | 2.8E-05 |
|
0.800 | 1.000 | 37 | 1991 | 2015 | |||||||
|
0.925 | 0.120 | 12 | 102852923 | missense variant | A/G;T | snv | 4.8E-04; 2.4E-05 |
|
0.800 | 1.000 | 37 | 1991 | 2016 | ||||||||
|
1.000 | 0.120 | 12 | 102852903 | missense variant | G/A;C;T | snv | 2.8E-05; 4.0E-06 |
|
0.810 | 1.000 | 36 | 1989 | 2017 | ||||||||
|
0.882 | 0.160 | 12 | 102840493 | missense variant | G/A | snv | 7.6E-04 | 9.0E-04 |
|
0.900 | 1.000 | 36 | 1987 | 2019 | |||||||
|
1.000 | 0.120 | 12 | 102851703 | missense variant | A/C | snv | 1.0E-04 | 7.0E-05 |
|
0.800 | 1.000 | 36 | 1991 | 2012 | |||||||
|
0.925 | 0.120 | 12 | 102851701 | missense variant | C/A | snv | 5.9E-04 | 3.4E-04 |
|
0.810 | 1.000 | 35 | 1992 | 2016 |