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 | 0.080 | 6 | 154043167 | intron variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 6 | 154091093 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 9 | 84849437 | intron variant | A/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 9 | 84789171 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.080 | 9 | 84711079 | intron variant | A/G | snv | 0.60 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 9 | 84981647 | intron variant | T/C | snv | 0.50 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 9 | 85019390 | intron variant | G/A | snv | 0.74 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 9 | 84899492 | intron variant | C/T | snv | 0.45 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 9 | 84923421 | intron variant | G/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 9 | 84672806 | intron variant | T/C | snv | 0.50 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 2 | 50443116 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 9 | 99865020 | 3 prime UTR variant | A/G | snv | 0.45 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
16 | 0.724 | 0.480 | 5 | 143278056 | 3 prime UTR variant | T/C | snv | 0.12 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 4 | 155186084 | intron variant | C/T | snv | 0.47 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
8 | 0.807 | 0.160 | 12 | 112083644 | intron variant | G/A | snv | 0.45 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
9 | 0.763 | 0.160 | X | 43744144 | synonymous variant | T/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 1 | 154565729 | non coding transcript exon variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.925 | 0.200 | 21 | 37645860 | intron variant | T/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 9 | 741307 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 9 | 677938 | intron variant | G/T | snv | 0.50 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
24 | 0.695 | 0.440 | 15 | 78513681 | intron variant | T/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
19 | 0.708 | 0.240 | 11 | 113932306 | missense variant | A/C | snv | 0.33 | 0.36 | 0.020 | 1.000 | 2 | 2013 | 2018 | |||
|
4 | 0.925 | 0.080 | 11 | 113904553 | upstream gene variant | T/C | snv | 0.32 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 11 | 113915817 | intron variant | C/T | snv | 0.51 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
41 | 0.645 | 0.640 | 13 | 46897343 | upstream gene variant | C/T | snv | 0.40 | 0.020 | 1.000 | 2 | 2011 | 2017 |