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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.050 | 1.000 | 5 | 1999 | 2016 | |||
|
5 | 0.827 | 0.160 | 12 | 50992283 | synonymous variant | A/G | snv | 0.17 | 0.15 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.020 | 0.500 | 2 | 2001 | 2015 | |||
|
58 | 0.581 | 0.680 | 16 | 27363079 | missense variant | A/G | snv | 0.25 | 0.36 | 0.010 | < 0.001 | 1 | 2001 | 2001 | |||
|
2 | 0.925 | 0.040 | 5 | 150407152 | missense variant | G/A | snv | 4.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
46 | 0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 | 0.800 | 0.846 | 13 | 2002 | 2018 | ||||
|
54 | 0.587 | 0.520 | 16 | 50712015 | missense variant | C/T | snv | 2.6E-02 | 2.9E-02 | 0.100 | 0.900 | 10 | 2002 | 2015 | |||
|
15 | 0.763 | 0.200 | 16 | 50710713 | missense variant | C/A;T | snv | 4.0E-06; 0.19 | 0.040 | 0.750 | 4 | 2002 | 2014 | ||||
|
19 | 0.716 | 0.440 | 11 | 46719773 | missense variant | G/A;T | snv | 4.5E-06; 4.5E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.100 | 0.850 | 20 | 2003 | 2018 | ||||
|
35 | 0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.800 | 0.923 | 13 | 2004 | 2017 | ||||
|
9 | 0.790 | 0.200 | 16 | 50710807 | missense variant | G/A | snv | 1.2E-05 | 2.1E-05 | 0.050 | 1.000 | 5 | 2004 | 2017 | |||
|
28 | 0.662 | 0.440 | 3 | 37012077 | missense variant | A/C;G;T | snv | 0.23 | 0.030 | 0.667 | 3 | 2004 | 2009 | ||||
|
19 | 0.701 | 0.240 | 12 | 52904798 | missense variant | C/A | snv | 4.9E-03 | 5.4E-03 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
8 | 0.827 | 0.120 | 7 | 87544351 | intron variant | A/T | snv | 0.43 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
2 | 0.925 | 0.040 | 7 | 87549770 | intron variant | G/A | snv | 0.29 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.080 | 0.875 | 8 | 2005 | 2018 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.080 | 1.000 | 8 | 2005 | 2017 | |||
|
3 | 0.925 | 0.040 | 16 | 50711664 | synonymous variant | C/T | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.040 | 16 | 50711892 | missense variant | G/C | snv | 8.0E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
3 | 0.882 | 0.080 | 16 | 50712085 | missense variant | C/G | snv | 3.2E-03 | 1.3E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
8 | 0.807 | 0.080 | 10 | 77856847 | missense variant | T/A;C | snv | 0.93 | 0.040 | 0.750 | 4 | 2006 | 2016 | ||||
|
15 | 0.716 | 0.320 | 9 | 104818690 | synonymous variant | A/G | snv | 7.0E-06 | 0.020 | 1.000 | 2 | 2006 | 2007 | ||||
|
2 | 0.925 | 0.040 | 16 | 50716670 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 |