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 | 0.120 | 15 | 58010689 | synonymous variant | T/C | snv | 8.4E-03 | 1.5E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
14 | 0.752 | 0.240 | 22 | 19968597 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 5 | 79074078 | intron variant | A/G | snv | 0.72 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
16 | 0.708 | 0.480 | 5 | 79126136 | missense variant | G/A | snv | 0.30 | 0.28 | 0.020 | 1.000 | 2 | 2005 | 2009 | |||
|
1 | 1.000 | 0.080 | 2 | 74142024 | intron variant | A/G;T | snv | 0.63 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 21 | 43067781 | non coding transcript exon variant | G/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.080 | 21 | 43067294 | intron variant | T/C | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
40 | 0.623 | 0.680 | 21 | 43062358 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
1 | 1.000 | 0.080 | 11 | 65857091 | splice donor variant | A/C | snv | 0.54 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 11 | 65856268 | 5 prime UTR variant | A/G | snv | 0.15 | 0.14 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.080 | 11 | 65856048 | synonymous variant | G/A | snv | 0.57 | 0.52 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
11 | 0.763 | 0.240 | 22 | 19942598 | intron variant | A/G | snv | 0.23 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.925 | 0.120 | 16 | 3728852 | frameshift variant | GCTGGGTGAGA/- | del | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.160 | 11 | 49206068 | stop lost | A/G | snv | 0.28 | 0.33 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
62 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.807 | 0.320 | 1 | 24331573 | missense variant | C/G | snv | 0.16 | 0.17 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
11 | 0.776 | 0.320 | 2 | 42769785 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 19 | 18435586 | synonymous variant | G/A | snv | 4.1E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.080 | 19 | 18435868 | synonymous variant | T/C | snv | 0.38 | 0.47 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.080 | 14 | 93015978 | intron variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
39 | 0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.160 | 1 | 65601426 | synonymous variant | T/C | snv | 0.22 | 0.24 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 14 | 64442433 | intron variant | G/A | snv | 0.40 | 0.33 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
52 | 0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 | 0.010 | 1.000 | 1 | 2016 | 2016 |