| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.732 | 0.200 | 18 | 60372043 | missense variant | C/T | snv | 1.6E-02 | 1.6E-02 |
|
0.100 | 1.000 | 13 | 1999 | 2014 | |||||||
|
0.827 | 0.160 | 18 | 60371599 | missense variant | T/G | snv | 6.9E-03 | 7.6E-03 |
|
0.040 | 0.500 | 4 | 2007 | 2015 | |||||||
|
0.851 | 0.160 | 18 | 60373354 | intron variant | G/A | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 18 | 60371539 | missense variant | A/G | snv | 4.0E-06 |
|
0.720 | 1.000 | 2 | 2003 | 2008 | ||||||||
|
0.925 | 0.120 | 18 | 60371428 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.120 | 18 | 60373245 | intron variant | G/A | snv | 0.39 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 18 | 60371808 | missense variant | C/T | snv | 1.6E-05 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 18 | 60371884 | stop gained | G/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 18 | 60372245 | stop gained | G/T | snv | 6.8E-05 | 1.3E-04 |
|
0.700 | 1.000 | 11 | 1999 | 2011 | |||||||
|
1.000 | 0.080 | 18 | 60371856 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 |
|
0.700 | 1.000 | 8 | 2000 | 2014 | |||||||
|
0.882 | 0.080 | 18 | 60371403 | missense variant | A/C | snv | 2.0E-05 | 1.4E-05 |
|
0.800 | 1.000 | 5 | 2003 | 2015 | |||||||
|
1.000 | 0.080 | 18 | 60372202 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.710 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 18 | 60372178 | missense variant | T/A | snv | 4.0E-06 |
|
0.710 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 18 | 60372045 | missense variant | A/C;G | snv | 4.0E-06 |
|
0.710 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.925 | 0.080 | 18 | 60372165 | missense variant | T/C | snv | 4.0E-06 |
|
0.710 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
1.000 | 0.080 | 18 | 60372131 | missense variant | C/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 18 | 60372261 | missense variant | G/A | snv | 9.5E-05 | 7.0E-05 |
|
0.710 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 18 | 60372015 | missense variant | G/A | snv | 9.0E-04 | 6.4E-04 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.925 | 0.080 | 18 | 60371970 | missense variant | G/A | snv | 1.7E-04 | 7.7E-05 |
|
0.810 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.080 | 18 | 60371943 | missense variant | G/A | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.080 | 18 | 60371744 | missense variant | G/T | snv | 6.9E-04 | 3.0E-03 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
1.000 | 0.080 | 18 | 60371940 | missense variant | A/G | snv | 2.4E-05 | 2.8E-05 |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||
|
1.000 | 0.080 | 18 | 60371593 | missense variant | C/T | snv | 5.6E-05 | 1.3E-04 |
|
0.810 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1.000 | 0.080 | 18 | 60371731 | missense variant | G/C | snv | 5.2E-05 | 5.6E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 18 | 60371631 | missense variant | T/C | snv | 1.6E-04 | 4.2E-04 |
|
0.010 | 1.000 | 1 | 2005 | 2005 |