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 | 9 | 108881749 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.080 | 2 | 102171877 | synonymous variant | A/G | snv | 1.1E-03 | 5.4E-03 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
4 | 0.851 | 0.080 | 16 | 1792266 | frameshift variant | T/- | del | 7.0E-06 | 0.030 | 1.000 | 3 | 1995 | 2009 | ||||
|
2 | 0.925 | 0.080 | 3 | 49687855 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | X | 56565469 | synonymous variant | C/T | snv | 9.4E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 16 | 30783980 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 6 | 152752270 | synonymous variant | A/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.080 | 14 | 20693894 | synonymous variant | T/A;C;G | snv | 4.0E-06; 0.14 | 0.040 | 0.500 | 4 | 2007 | 2016 | ||||
|
1 | 1.000 | 0.080 | 9 | 27519175 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 2 | 25161629 | stop gained | G/A;C;T | snv | 6.7E-06; 1.3E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
14 | 0.763 | 0.200 | 17 | 17811787 | splice region variant | G/A | snv | 0.45 | 0.33 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.080 | 17 | 33292023 | synonymous variant | C/T | snv | 7.1E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.240 | 7 | 95425028 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.080 | 7 | 101916177 | synonymous variant | A/G | snv | 8.0E-06 | 0.050 | 1.000 | 5 | 2004 | 2015 | ||||
|
1 | 1.000 | 0.080 | 9 | 34637419 | splice region variant | C/A;T | snv | 4.8E-03 | 0.020 | 1.000 | 2 | 2014 | 2017 | ||||
|
3 | 1.000 | 0.080 | 1 | 175171183 | intron variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 4 | 3074912 | synonymous variant | G/A | snv | 5.9E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.080 | 1 | 11022278 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.882 | 0.280 | 2 | 32063962 | stop gained | C/A;T | snv | 4.1E-06; 4.6E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
11 | 0.763 | 0.200 | 9 | 35065363 | missense variant | C/A;G;T | snv | 0.020 | 0.500 | 2 | 2010 | 2013 | |||||
|
11 | 0.752 | 0.200 | 9 | 35065364 | missense variant | G/A;C;T | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
10 | 0.752 | 0.200 | 9 | 35065255 | missense variant | C/T | snv | 1.6E-05 | 0.020 | 1.000 | 2 | 2010 | 2013 | ||||
|
9 | 0.776 | 0.200 | 9 | 35065351 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 2 | 74366896 | missense variant | G/A;C | snv | 1.9E-04 | 0.010 | 1.000 | 1 | 2004 | 2004 |