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 | 1.000 | 0.120 | 1 | 94019602 | frameshift variant | -/C | delins | 4.1E-06 | 0.700 | 0 | |||||||
|
7 | 0.925 | 0.240 | X | 53634235 | splice donor variant | C/G | snv | 0.700 | 0 | ||||||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||
|
24 | 0.677 | 0.440 | 7 | 95405463 | missense variant | G/C | snv | 0.27 | 0.27 | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||
|
82 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 0.030 | 0.333 | 3 | 2012 | 2013 | |||
|
55 | 0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 | 0.020 | 0.500 | 2 | 2005 | 2019 | |||
|
49 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.020 | 0.500 | 2 | 2012 | 2013 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.040 | 1.000 | 4 | 2005 | 2013 | |||
|
11 | 0.807 | 0.080 | 3 | 129528801 | missense variant | C/A | snv | 0.020 | 1.000 | 2 | 2012 | 2017 | |||||
|
36 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 0.020 | 1.000 | 2 | 2000 | 2006 | ||||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.020 | 1.000 | 2 | 2007 | 2010 | |||||
|
72 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
7 | 0.827 | 0.200 | 10 | 113047288 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
22 | 0.724 | 0.400 | 11 | 66526181 | missense variant | T/G | snv | 1.5E-03 | 2.1E-03 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | X | 120449056 | stop gained | G/C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
15 | 0.752 | 0.200 | 2 | 55871091 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 7 | 18389298 | intron variant | A/G | snv | 2.9E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
5 | 0.882 | 0.080 | 11 | 61955892 | missense variant | G/A | snv | 5.2E-04 | 3.3E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 1.000 | 0.120 | 9 | 114235944 | intron variant | G/A | snv | 6.8E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1995 | 1995 | ||||
|
8 | 0.807 | 0.120 | 13 | 50843630 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
11 | 0.776 | 0.080 | 4 | 16013299 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 |