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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.080 | 8 | 74360184 | missense variant | C/T | snv | 7.0E-06 |
|
0.700 | 1.000 | 9 | 2003 | 2012 | ||||||||
|
0.925 | 0.080 | 8 | 74360295 | missense variant | A/C | snv |
|
0.700 | 1.000 | 6 | 2005 | 2017 | |||||||||
|
0.882 | 0.080 | 8 | 74364057 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 1.000 | 5 | 2004 | 2018 | |||||||
|
0.882 | 0.080 | 8 | 74360194 | missense variant | A/G | snv |
|
0.700 | 1.000 | 5 | 2011 | 2017 | |||||||||
|
1.000 | 0.080 | 8 | 74364218 | missense variant | C/T | snv | 1.2E-05 | 3.5E-05 |
|
0.700 | 1.000 | 5 | 2005 | 2017 | |||||||
|
1.000 | 0.080 | 8 | 74360202 | missense variant | G/A | snv |
|
0.700 | 1.000 | 5 | 2005 | 2017 | |||||||||
|
0.790 | 0.080 | 8 | 74361886 | stop gained | C/T | snv | 7.6E-05 | 1.5E-04 |
|
0.700 | 1.000 | 3 | 2002 | 2011 | |||||||
|
0.790 | 0.120 | 8 | 74364005 | missense variant | C/T | snv | 3.2E-05 | 4.2E-05 |
|
0.700 | 1.000 | 3 | 2003 | 2009 | |||||||
|
1.000 | 0.080 | 8 | 74361970 | stop gained | C/T | snv |
|
0.700 | 1.000 | 3 | 2007 | 2013 | |||||||||
|
0.925 | 0.080 | 8 | 74360173 | missense variant | T/C;G | snv | 8.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 3 | 2004 | 2014 | |||||||
|
1.000 | 0.080 | 8 | 74360284 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-05 |
|
0.700 | 1.000 | 3 | 2007 | 2017 | ||||||||
|
1.000 | 0.080 | 8 | 74361979 | splice donor variant | G/A | snv | 4.0E-06 |
|
0.700 | 1.000 | 3 | 2002 | 2010 | ||||||||
|
0.851 | 0.080 | 8 | 74362940 | stop gained | C/G | snv | 4.0E-06 | 2.1E-05 |
|
0.700 | 1.000 | 2 | 2002 | 2011 | |||||||
|
1.000 | 0.080 | 8 | 74361900 | frameshift variant | AG/- | delins |
|
0.700 | 1.000 | 2 | 2002 | 2010 | |||||||||
|
0.882 | 0.080 | 8 | 74360199 | stop gained | C/T | snv | 1.6E-05 | 7.0E-06 |
|
0.700 | 1.000 | 2 | 2009 | 2011 | |||||||
|
8 | 74354444 | intron variant | A/G | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
1.000 | 0.080 | 8 | 74360225 | missense variant | G/A | snv | 1.1E-04 | 1.7E-04 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.040 | 8 | 74428862 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.040 | 8 | 74428862 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
8 | 74382875 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||||
|
8 | 74380257 | intron variant | C/T | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
0.925 | 0.080 | 8 | 74364305 | frameshift variant | -/T | delins | 4.0E-06 | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 8 | 74361900 | frameshift variant | A/- | del | 4.0E-06 | 2.8E-05 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.080 | 8 | 74362940 | stop gained | C/G | snv | 4.0E-06 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.080 | 8 | 74362940 | stop gained | C/G | snv | 4.0E-06 | 2.1E-05 |
|
0.700 | 0 |