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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.120 | 4 | 54736498 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
12 | 0.763 | 0.240 | 4 | 54733174 | missense variant | T/A;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 172105697 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 19 | 1220396 | missense variant | G/A | snv | 0.700 | 1.000 | 3 | 1998 | 2008 | |||||
|
3 | 0.882 | 0.120 | 21 | 33415009 | synonymous variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
28 | 0.653 | 0.600 | 6 | 31576786 | synonymous variant | G/A | snv | 1.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
5 | 0.851 | 0.240 | 5 | 142302223 | regulatory region variant | G/A | snv | 0.55 | 0.810 | 1.000 | 6 | 2009 | 2017 | ||||
|
5 | 0.851 | 0.240 | 6 | 33574761 | intron variant | A/G | snv | 0.19 | 0.800 | 1.000 | 5 | 2009 | 2017 | ||||
|
9 | 0.776 | 0.320 | 12 | 88496894 | 3 prime UTR variant | A/G | snv | 0.67 | 0.720 | 1.000 | 5 | 2009 | 2019 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
3 | 0.925 | 0.200 | 4 | 103216633 | intergenic variant | C/T | snv | 0.44 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
25 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 5 | 119526018 | missense variant | A/G | snv | 0.42 | 0.41 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
17 | 0.827 | 0.200 | 20 | 35437976 | 5 prime UTR variant | G/A | snv | 0.44 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.925 | 0.200 | 20 | 35326405 | intron variant | A/G | snv | 0.49 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.200 | 14 | 64309058 | intron variant | C/T | snv | 0.17 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.120 | 14 | 64352051 | non coding transcript exon variant | G/A | snv | 0.45 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 14 | 64225135 | intron variant | C/T | snv | 5.6E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.200 | 14 | 64256807 | intron variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 15 | 51256585 | intron variant | C/T | snv | 0.83 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.160 | 14 | 64299934 | intron variant | T/C | snv | 0.53 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.200 | 15 | 51314381 | intron variant | T/C | snv | 0.31 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 12 | 95273561 | intron variant | C/T | snv | 0.48 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 15 | 51226173 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 1.000 | 0.120 | 3 | 16583541 | downstream gene variant | A/G | snv | 0.22 | 0.800 | 1.000 | 4 | 2013 | 2017 |