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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 1 | 231423480 | intron variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 1 | 231426746 | intron variant | G/C | snv | 0.12 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.200 | 6 | 43772941 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.925 | 0.240 | 2 | 238848438 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.240 | 14 | 96204802 | 5 prime UTR variant | C/T | snv | 0.41 | 0.39 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 1 | 231424474 | intron variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 6 | 43778432 | non coding transcript exon variant | C/T | snv | 0.29 | 0.23 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
62 | 0.576 | 0.720 | 6 | 43784799 | 3 prime UTR variant | C/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.200 | 1 | 231395881 | intron variant | T/C | snv | 0.64 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.120 | 2 | 46331293 | intron variant | A/G | snv | 0.42 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
11 | 0.776 | 0.440 | 6 | 43774889 | non coding transcript exon variant | T/C | snv | 0.58 | 0.010 | 1.000 | 1 | 2011 | 2011 |