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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
72 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||
|
4 | 0.925 | 0.080 | 20 | 23049378 | missense variant | C/T | snv | 2.0E-03 | 2.5E-03 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
4 | 1.000 | 0.080 | 17 | 47292411 | synonymous variant | A/G | snv | 0.29 | 0.29 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
26 | 0.683 | 0.480 | 17 | 47283364 | missense variant | T/C | snv | 0.12 | 0.13 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
2 | 1.000 | 0.080 | 11 | 46726797 | missense variant | A/G | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
1 | 6 | 31655039 | intron variant | T/C | snv | 4.4E-02 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||
|
16 | 0.732 | 0.240 | 20 | 23048087 | missense variant | G/A;T | snv | 0.19 | 0.050 | 0.600 | 5 | 2003 | 2017 | ||||
|
11 | 0.763 | 0.120 | 20 | 23048144 | missense variant | A/G | snv | 1.0E-04 | 2.8E-04 | 0.030 | 0.667 | 3 | 2003 | 2013 | |||
|
8 | 0.807 | 0.240 | 19 | 10631494 | missense variant | A/G | snv | 0.80 | 0.83 | 0.720 | 0.750 | 4 | 2015 | 2020 | |||
|
2 | 1.000 | 0.120 | 10 | 69485520 | intron variant | T/C | snv | 8.5E-02 | 0.710 | 0.800 | 5 | 2015 | 2020 | ||||
|
102 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 0.100 | 0.895 | 19 | 2000 | 2015 | ||||
|
10 | 0.807 | 0.240 | 4 | 154604124 | downstream gene variant | G/A | snv | 0.26 | 0.860 | 0.900 | 10 | 2011 | 2019 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.903 | 31 | 1997 | 2015 | |||
|
43 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 0.900 | 1.000 | 16 | 1997 | 2019 | ||||
|
82 | 0.547 | 0.720 | 11 | 46739084 | missense variant | G/A;C | snv | 0.100 | 1.000 | 15 | 1999 | 2019 | |||||
|
65 | 0.574 | 0.680 | 1 | 169546513 | missense variant | T/C | snv | 4.0E-06 | 0.100 | 1.000 | 10 | 1999 | 2019 | ||||
|
25 | 0.695 | 0.400 | 11 | 46739505 | 3 prime UTR variant | G/A | snv | 9.6E-03 | 0.730 | 1.000 | 8 | 2012 | 2019 | ||||
|
11 | 0.763 | 0.320 | 3 | 93905799 | missense variant | T/C | snv | 2.8E-05 | 1.4E-05 | 0.060 | 1.000 | 6 | 2014 | 2019 | |||
|
16 | 0.724 | 0.200 | 11 | 46729529 | missense variant | G/A | snv | 1.6E-05 | 4.2E-05 | 0.060 | 1.000 | 6 | 1999 | 2019 | |||
|
187 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.060 | 1.000 | 6 | 2008 | 2019 | ||||
|
5 | 0.882 | 0.160 | 4 | 186271327 | intron variant | T/C | snv | 0.57 | 0.830 | 1.000 | 5 | 2011 | 2019 | ||||
|
4 | 1.000 | 0.040 | 4 | 186286227 | non coding transcript exon variant | C/T | snv | 0.35 | 0.740 | 1.000 | 5 | 2013 | 2019 | ||||
|
16 | 0.882 | 0.200 | 9 | 133266456 | intron variant | T/C | snv | 0.820 | 1.000 | 4 | 2011 | 2019 | |||||
|
13 | 0.851 | 0.120 | 9 | 133274084 | intron variant | C/T | snv | 0.800 | 1.000 | 4 | 2011 | 2016 | |||||
|
3 | 1.000 | 0.040 | 4 | 186199057 | missense variant | C/A | snv | 0.57 | 0.61 | 0.030 | 1.000 | 3 | 2009 | 2019 |