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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.763 | 0.280 | 17 | 7630105 | 5 prime UTR variant | G/A | snv | 0.18 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
43 | 0.605 | 0.800 | 7 | 22726602 | non coding transcript exon variant | A/G | snv | 0.72 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
23 | 0.695 | 0.400 | 5 | 148827322 | missense variant | C/T | snv | 9.1E-03 | 9.1E-03 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.120 | 11 | 73975612 | missense variant | C/T | snv | 8.0E-05 | 4.9E-05 | 0.010 | < 0.001 | 1 | 1998 | 1998 | |||
|
2 | 0.925 | 0.120 | 5 | 148827105 | missense variant | G/A | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.080 | 1 | 157135581 | missense variant | C/G | snv | 4.8E-05 | 4.2E-05 | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.160 | 17 | 6996757 | intron variant | G/A | snv | 0.20 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 14 | 80205865 | intron variant | T/A;C | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||
|
5 | 0.882 | 0.160 | 14 | 80201236 | 3 prime UTR variant | G/A | snv | 0.37 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
16 | 0.724 | 0.320 | 20 | 388261 | missense variant | A/G;T | snv | 0.18; 4.0E-06 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 46413890 | downstream gene variant | T/G | snv | 0.60 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 2 | 207088682 | intron variant | T/C;G | snv | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.080 | 9 | 63957 | intron variant | C/A | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
7 | 0.925 | 0.200 | 1 | 72346757 | intron variant | G/A | snv | 0.62 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
5 | 0.925 | 0.200 | 6 | 31605179 | intergenic variant | A/C | snv | 0.34 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 1 | 65616036 | missense variant | G/C | snv | 8.0E-06 | 1.4E-05 | 0.010 | < 0.001 | 1 | 1998 | 1998 | |||
|
2 | 1.000 | 0.080 | 19 | 16325451 | missense variant | T/C | snv | 0.75 | 0.82 | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 0.080 | 6 | 35797291 | splice donor variant | T/C | snv | 0.25 | 0.26 | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.080 | 6 | 35797166 | intron variant | T/C | snv | 0.23 | 0.22 | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.120 | 18 | 60246201 | intergenic variant | G/A | snv | 0.31 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.080 | 11 | 18264227 | upstream gene variant | A/T | snv | 0.67 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
13 | 0.742 | 0.360 | 3 | 10286769 | missense variant | T/A | snv | 0.10 | 6.6E-02 | 0.710 | < 0.001 | 1 | 2009 | 2009 | |||
|
35 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 18 | 60228805 | intergenic variant | G/A;T | snv | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||||
|
6 | 0.851 | 0.160 | 16 | 28862077 | intron variant | G/A | snv | 0.34 | 0.010 | < 0.001 | 1 | 2013 | 2013 |