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 | 0.200 | 1 | 156137666 | missense variant | C/A;G;T | snv |
|
0.810 | 1.000 | 24 | 1999 | 2017 | |||||||||
|
0.925 | 0.120 | 1 | 156130757 | missense variant | G/A;C | snv | 4.8E-05 |
|
0.800 | 1.000 | 20 | 1999 | 2017 | ||||||||
|
0.925 | 0.160 | 1 | 156115172 | missense variant | T/A;G | snv |
|
0.800 | 1.000 | 20 | 1999 | 2017 | |||||||||
|
0.882 | 0.160 | 1 | 156134474 | missense variant | C/A;G | snv |
|
0.800 | 1.000 | 20 | 1999 | 2017 | |||||||||
|
0.882 | 0.040 | 1 | 156134464 | missense variant | A/G;T | snv |
|
0.720 | 1.000 | 18 | 1999 | 2012 | |||||||||
|
0.851 | 0.040 | 1 | 156130687 | missense variant | T/C | snv |
|
0.720 | 1.000 | 18 | 1999 | 2019 | |||||||||
|
0.925 | 0.040 | 1 | 156137191 | missense variant | G/A;C | snv | 8.6E-05 |
|
0.700 | 1.000 | 17 | 1999 | 2012 | ||||||||
|
1.000 | 0.040 | 1 | 156115220 | missense variant | G/A;C;T | snv | 4.1E-06 |
|
0.700 | 1.000 | 17 | 1999 | 2012 | ||||||||
|
0.882 | 0.160 | 1 | 156134458 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 17 | 1999 | 2012 | |||||||||
|
1.000 | 0.040 | 1 | 156134518 | missense variant | T/G | snv |
|
0.700 | 1.000 | 17 | 1999 | 2012 | |||||||||
|
0.925 | 0.160 | 1 | 156136219 | missense variant | G/A;C | snv | 1.2E-05 |
|
0.700 | 1.000 | 17 | 1999 | 2012 | ||||||||
|
1.000 | 0.040 | 1 | 156134497 | missense variant | A/G;T | snv |
|
0.800 | 1.000 | 17 | 1999 | 2012 | |||||||||
|
0.882 | 0.160 | 1 | 156130741 | missense variant | G/A | snv |
|
0.810 | 1.000 | 17 | 1999 | 2012 | |||||||||
|
0.925 | 0.120 | 1 | 156135913 | stop gained | G/A;T | snv |
|
0.700 | 1.000 | 17 | 1999 | 2012 | |||||||||
|
1.000 | 0.040 | 1 | 156136010 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 17 | 1999 | 2012 | ||||||||
|
0.925 | 0.120 | 1 | 156115184 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 17 | 1999 | 2012 | |||||||||
|
1.000 | 0.040 | 1 | 156115207 | missense variant | A/G | snv |
|
0.700 | 1.000 | 17 | 1999 | 2012 | |||||||||
|
0.827 | 0.160 | 1 | 156134496 | missense variant | G/A | snv |
|
0.700 | 1.000 | 17 | 1999 | 2012 | |||||||||
|
0.827 | 0.200 | 1 | 156137666 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 14 | 2003 | 2017 | |||||||||
|
0.827 | 0.160 | 1 | 156134911 | missense variant | G/A | snv |
|
0.700 | 1.000 | 13 | 2000 | 2014 | |||||||||
|
0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 12 | 1991 | 2013 | |||||||||
|
0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 12 | 1991 | 2013 | |||||||||
|
0.827 | 0.280 | 1 | 156138613 | splice region variant | C/A;T | snv | 8.1E-06 |
|
0.790 | 0.917 | 12 | 2003 | 2018 | ||||||||
|
0.851 | 0.240 | 1 | 156130688 | missense variant | C/G;T | snv |
|
0.730 | 1.000 | 12 | 2003 | 2015 | |||||||||
|
0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv |
|
0.800 | 1.000 | 11 | 2000 | 2014 |