Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.160 | 9 | 36217399 | missense variant | A/G | snv | 4.0E-05 | 7.0E-06 | 0.900 | 1.000 | 26 | 2001 | 2017 | |||
|
1 | 1.000 | 0.120 | 9 | 36217412 | missense variant | C/T | snv | 0.700 | 1.000 | 3 | 2004 | 2014 | |||||
|
3 | 0.925 | 0.160 | 9 | 36217448 | missense variant | C/A;T | snv | 8.9E-04; 1.7E-03 | 0.810 | 1.000 | 23 | 2001 | 2017 | ||||
|
1 | 1.000 | 0.120 | 9 | 36217490 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-06 | 0.040 | 1.000 | 4 | 2002 | 2007 | ||||
|
1 | 1.000 | 0.120 | 9 | 36217511 | missense variant | A/G | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 9 | 36217541 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.160 | 9 | 36218224 | missense variant | G/A | snv | 8.7E-05 | 1.0E-04 | 0.800 | 1.000 | 19 | 2001 | 2014 | |||
|
1 | 1.000 | 0.120 | 9 | 36218225 | missense variant | C/T | snv | 2.8E-05 | 0.800 | 1.000 | 12 | 2001 | 2004 | ||||
|
1 | 1.000 | 0.120 | 9 | 36218228 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 9 | 36218272 | stop gained | G/C | snv | 8.0E-06 | 2.8E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.120 | 9 | 36219856 | missense variant | C/T | snv | 0.800 | 1.000 | 14 | 2001 | 2008 | |||||
|
1 | 1.000 | 0.120 | 9 | 36219873 | frameshift variant | A/- | del | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||
|
2 | 0.925 | 0.160 | 9 | 36219894 | missense variant | A/G | snv | 4.0E-06 | 2.8E-05 | 0.810 | 1.000 | 19 | 2001 | 2015 | |||
|
1 | 1.000 | 0.120 | 9 | 36219914 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 36219927 | missense variant | C/T | snv | 8.0E-06 | 0.800 | 1.000 | 12 | 2001 | 2004 | ||||
|
1 | 1.000 | 0.120 | 9 | 36219940 | missense variant | C/G | snv | 1.6E-05 | 0.840 | 1.000 | 14 | 2001 | 2007 | ||||
|
1 | 1.000 | 0.120 | 9 | 36219968 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 36219984 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 36222794 | frameshift variant | AACAAAGT/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 9 | 36222839 | missense variant | G/A;T | snv | 4.8E-05; 4.0E-06 | 0.800 | 1.000 | 18 | 2001 | 2015 | ||||
|
1 | 1.000 | 0.120 | 9 | 36222854 | missense variant | T/C | snv | 0.800 | 1.000 | 14 | 2001 | 2015 | |||||
|
1 | 1.000 | 0.120 | 9 | 36222866 | frameshift variant | CT/- | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.120 | 9 | 36222885 | missense variant | G/A | snv | 8.0E-06 | 0.700 | 1.000 | 4 | 2011 | 2017 | ||||
|
1 | 1.000 | 0.120 | 9 | 36222887 | missense variant | A/G | snv | 7.0E-06 | 0.720 | 1.000 | 4 | 2011 | 2015 | ||||
|
1 | 1.000 | 0.120 | 9 | 36222925 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 |