| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.200 | 3 | 10142038 | missense variant | G/A;C | snv |
|
0.800 | 0 | ||||||||||||
|
1.000 | 0.040 | 3 | 10146613 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.200 | 3 | 10146528 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 3 | 10141921 | missense variant | C/T | snv | 3.0E-03 | 2.6E-03 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.200 | 3 | 10149790 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.280 | 3 | 10149822 | missense variant | C/G;T | snv | 8.0E-06 |
|
0.800 | 0 | |||||||||||
|
0.827 | 0.280 | 3 | 10149823 | missense variant | G/A;C;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 3 | 10146580 | missense variant | T/C;G | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.200 | 3 | 10149805 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.160 | 10 | 43114502 | missense variant | C/G | snv | 4.0E-06 |
|
0.800 | 0 | |||||||||||
|
0.925 | 0.160 | 3 | 10142040 | missense variant | T/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.280 | 3 | 10142086 | missense variant | G/A;T | snv |
|
0.710 | < 0.001 | 0 | 2008 | 2008 | |||||||||
|
0.672 | 0.280 | 10 | 43118460 | missense variant | A/G;T | snv | 4.0E-06; 2.1E-03 |
|
0.830 | 0.667 | 0 | 2010 | 2015 | ||||||||
|
1.000 | 0.040 | 1 | 17028724 | missense variant | G/A;C | snv | 8.0E-06 |
|
0.800 | 1.000 | 10 | 2001 | 2014 | ||||||||
|
0.882 | 0.080 | 1 | 17022685 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 |
|
0.800 | 1.000 | 10 | 2001 | 2015 | |||||||
|
0.882 | 0.080 | 1 | 17022648 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 |
|
0.800 | 1.000 | 10 | 2001 | 2015 | |||||||
|
0.882 | 0.080 | 1 | 17044825 | stop gained | G/A;C | snv | 1.6E-05 |
|
0.800 | 1.000 | 10 | 2001 | 2017 | ||||||||
|
1.000 | 0.040 | 1 | 17028721 | missense variant | C/T | snv |
|
0.800 | 1.000 | 10 | 2001 | 2014 | |||||||||
|
1.000 | 0.040 | 1 | 17044767 | missense variant | A/G;T | snv |
|
0.700 | 1.000 | 10 | 2001 | 2014 | |||||||||
|
0.882 | 0.080 | 1 | 17024041 | missense variant | A/G | snv |
|
0.800 | 1.000 | 7 | 2001 | 2007 | |||||||||
|
0.882 | 0.080 | 1 | 17024028 | missense variant | C/T | snv |
|
0.700 | 1.000 | 7 | 2001 | 2007 | |||||||||
|
1.000 | 0.040 | 14 | 65102315 | missense variant | C/A | snv | 8.9E-05 | 7.0E-05 |
|
0.700 | 1.000 | 6 | 2011 | 2015 | |||||||
|
1.000 | 0.040 | 2 | 96254107 | missense variant | A/G | snv |
|
0.800 | 1.000 | 5 | 2010 | 2014 | |||||||||
|
1.000 | 0.040 | 2 | 96254106 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 5 | 2010 | 2014 | ||||||||
|
1.000 | 0.040 | 3 | 10142035 | missense variant | T/A;C | snv |
|
0.700 | 1.000 | 3 | 2013 | 2014 |