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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.763 | 0.200 | 17 | 17811787 | splice region variant | G/A | snv | 0.45 | 0.33 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 1.000 | 0.080 | 15 | 67744514 | intron variant | A/G | snv | 0.53 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
21 | 0.716 | 0.400 | 1 | 155236354 | missense variant | T/C | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 1.000 | 0.040 | 4 | 858525 | intron variant | C/T | snv | 8.1E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
16 | 0.742 | 0.200 | 7 | 12244161 | downstream gene variant | A/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 12 | 40319998 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
12 | 0.807 | 0.200 | 7 | 12229791 | missense variant | C/A;G | snv | 0.49 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
24 | 0.708 | 0.120 | 12 | 40310434 | missense variant | C/A;G;T | snv | 4.0E-06; 1.2E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.925 | 0.080 | 3 | 161275076 | regulatory region variant | C/T | snv | 0.28 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
78 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 1.000 | 0.040 | 3 | 19950975 | frameshift variant | -/GG | delins | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
6 | 0.851 | 0.120 | 11 | 35308068 | intron variant | G/T | snv | 0.20 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.925 | 0.080 | X | 152652814 | missense variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 4 | 69107231 | synonymous variant | C/G | snv | 0.56 | 0.59 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||
|
23 | 0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
1 | 4 | 69094669 | intron variant | C/G | snv | 0.58 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 69094762 | intron variant | T/A | snv | 0.58 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 4 | 69113183 | downstream gene variant | T/C | snv | 0.59 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
15 | 0.732 | 0.080 | 20 | 58418318 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
16 | 0.752 | 0.320 | 4 | 69098620 | missense variant | T/C | snv | 0.56 | 0.57 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 11 | 18358030 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
35 | 0.658 | 0.520 | 1 | 155235843 | missense variant | T/C;G | snv | 2.3E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.925 | 0.040 | 1 | 110603893 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.827 | 0.200 | 1 | 201077915 | missense variant | C/A;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 |