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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.030 | 1.000 | 3 | 2009 | 2018 | |||||
|
1 | 1.000 | 0.040 | 1 | 160681173 | frameshift variant | -/T | ins | 5.6E-05 | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.030 | 1.000 | 3 | 2009 | 2018 | |||||
|
48 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 0.020 | 1.000 | 2 | 2013 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 160681172 | frameshift variant | C/-;CC;CCC | delins | 5.2E-05 | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||
|
3 | 0.882 | 0.040 | 10 | 13109279 | frameshift variant | -/AGCT | delins | 0.700 | 0 | ||||||||
|
15 | 0.732 | 0.240 | 1 | 171636338 | stop gained | G/A | snv | 1.1E-03 | 8.7E-04 | 0.800 | 0.964 | 28 | 1997 | 2019 | |||
|
7 | 0.807 | 0.040 | 10 | 13109270 | missense variant | G/A | snv | 0.760 | 1.000 | 16 | 2002 | 2017 | |||||
|
4 | 0.851 | 0.040 | 10 | 13136766 | missense variant | G/A | snv | 3.1E-03 | 1.0E-03 | 0.740 | 0.867 | 15 | 2002 | 2014 | |||
|
4 | 0.851 | 0.040 | 14 | 60606157 | upstream gene variant | T/C | snv | 0.45 | 0.100 | 0.917 | 12 | 2011 | 2019 | ||||
|
1 | 1.000 | 0.040 | 10 | 13110416 | missense variant | G/C | snv | 1.2E-05 | 0.700 | 1.000 | 11 | 2002 | 2014 | ||||
|
2 | 0.925 | 0.040 | 10 | 13109198 | missense variant | C/A;G;T | snv | 8.0E-06; 2.0E-05; 2.4E-05 | 0.700 | 1.000 | 11 | 2002 | 2014 | ||||
|
1 | 1.000 | 0.040 | 10 | 13132122 | missense variant | A/G | snv | 1.6E-05 | 7.7E-05 | 0.700 | 1.000 | 11 | 2002 | 2014 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.080 | 0.875 | 8 | 2005 | 2016 | |||
|
4 | 0.882 | 0.040 | 7 | 116522675 | upstream gene variant | G/A | snv | 0.28 | 0.080 | 1.000 | 8 | 2011 | 2018 | ||||
|
15 | 0.716 | 0.360 | 15 | 73929861 | intron variant | T/C | snv | 0.60 | 0.070 | 0.857 | 7 | 2008 | 2015 | ||||
|
7 | 0.807 | 0.200 | 14 | 60509819 | missense variant | C/A;G | snv | 0.53 | 0.070 | 1.000 | 7 | 2014 | 2019 | ||||
|
15 | 0.716 | 0.320 | 15 | 73927241 | missense variant | G/A;C;T | snv | 0.18; 4.5E-06 | 0.070 | 0.571 | 7 | 2008 | 2015 | ||||
|
14 | 0.732 | 0.320 | 15 | 73927205 | missense variant | G/T | snv | 0.33 | 0.28 | 0.060 | 0.833 | 6 | 2008 | 2015 | |||
|
6 | 0.807 | 0.080 | 1 | 171636310 | missense variant | G/A | snv | 2.0E-05 | 3.5E-05 | 0.060 | 1.000 | 6 | 2003 | 2012 | |||
|
24 | 0.695 | 0.520 | 9 | 22003368 | 3 prime UTR variant | G/A;T | snv | 0.050 | 0.800 | 5 | 2011 | 2017 | |||||
|
9 | 0.776 | 0.160 | 10 | 13110400 | missense variant | T/A | snv | 4.4E-02 | 6.0E-02 | 0.050 | 0.600 | 5 | 2004 | 2010 | |||
|
9 | 0.776 | 0.080 | 1 | 171636331 | missense variant | G/A | snv | 0.050 | 1.000 | 5 | 2002 | 2011 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.040 | 0.750 | 4 | 2009 | 2019 | ||||
|
2 | 0.925 | 0.040 | 2 | 51845108 | intron variant | C/T | snv | 0.18 | 0.040 | 1.000 | 4 | 2009 | 2015 |