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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.160 | 13 | 109599813 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | X | 109719433 | intron variant | A/G | snv | 0.45 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.827 | 0.240 | 13 | 109755559 | 3 prime UTR variant | T/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.882 | 0.160 | 16 | 11003622 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.080 | 4 | 110199010 | intron variant | A/G | snv | 0.34 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 0.882 | 0.080 | 19 | 11100340 | missense variant | C/G;T | snv | 1.2E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 0.925 | 0.080 | 19 | 11107508 | stop gained | G/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 0.882 | 0.080 | 19 | 11107511 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
4 | 0.925 | 0.040 | 19 | 11110693 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 0.925 | 0.080 | 19 | 11110768 | stop gained | G/A;T | snv | 6.0E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 19 | 11120434 | synonymous variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
12 | 0.724 | 0.480 | 12 | 111672685 | synonymous variant | T/C | snv | 1.9E-02 | 5.9E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
10 | 0.763 | 0.360 | 12 | 111681367 | intron variant | T/C | snv | 5.8E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
93 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.710 | 1.000 | 1 | 2017 | 2017 | |||
|
5 | 0.827 | 0.120 | 8 | 11187652 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
12 | 0.807 | 0.240 | 2 | 11218994 | missense variant | G/C;T | snv | 0.49 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.080 | 2 | 112588836 | 3 prime UTR variant | C/G | snv | 0.41 | 0.35 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
43 | 0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
79 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.870 | 0.875 | 7 | 2008 | 2018 | |||||
|
26 | 0.667 | 0.480 | 10 | 113049143 | intron variant | G/A;T | snv | 0.030 | 0.667 | 3 | 2009 | 2018 | |||||
|
1 | 1.000 | 0.040 | 10 | 113089594 | intron variant | C/T | snv | 0.28 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.120 | 2 | 113119918 | intron variant | G/T | snv | 0.78 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
10 | 0.763 | 0.400 | 2 | 113132727 | missense variant | T/A;C | snv | 4.0E-06; 0.31 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 10 | 113151854 | synonymous variant | C/T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 10 | 113152371 | synonymous variant | C/T | snv | 2.8E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 |