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 | 17336144 | intron variant | T/C | snv | 0.56 | 0.54 | 0.770 | 1.000 | 7 | 2008 | 2017 | |||
|
1 | 1.000 | 0.120 | 16 | 85985481 | upstream gene variant | T/A | snv | 0.24 | 0.800 | 1.000 | 4 | 2012 | 2019 | ||||
|
1 | 1.000 | 0.120 | 6 | 167127354 | intron variant | C/T | snv | 0.61 | 0.800 | 1.000 | 4 | 2012 | 2019 | ||||
|
1 | 1.000 | 0.120 | 5 | 103273223 | intron variant | G/A | snv | 0.24 | 0.800 | 1.000 | 4 | 2012 | 2019 | ||||
|
1 | 1.000 | 0.120 | 2 | 60897715 | intron variant | T/C | snv | 0.26 | 0.800 | 1.000 | 4 | 2012 | 2019 | ||||
|
1 | 1.000 | 0.120 | 2 | 186656533 | intron variant | C/A;G | snv | 0.28 | 0.040 | 0.750 | 4 | 2007 | 2014 | ||||
|
1 | 1.000 | 0.120 | 15 | 69699078 | non coding transcript exon variant | G/A | snv | 0.35 | 0.800 | 1.000 | 4 | 2012 | 2019 | ||||
|
1 | 1.000 | 0.120 | 6 | 32366178 | missense variant | T/C | snv | 0.42 | 0.33 | 0.700 | 1.000 | 4 | 2007 | 2011 | |||
|
1 | 1.000 | 0.120 | 6 | 137644281 | intergenic variant | G/A | snv | 0.24 | 0.030 | 0.667 | 3 | 2009 | 2016 | ||||
|
1 | 1.000 | 0.120 | 7 | 55171181 | synonymous variant | T/A;G | snv | 0.030 | 1.000 | 3 | 2012 | 2017 | |||||
|
1 | 1.000 | 0.120 | 6 | 44265183 | missense variant | A/G | snv | 4.9E-02 | 5.1E-02 | 0.810 | 1.000 | 3 | 2012 | 2016 | |||
|
1 | 1.000 | 0.120 | 1 | 17348042 | synonymous variant | C/A | snv | 0.39 | 0.37 | 0.810 | 1.000 | 3 | 2011 | 2019 | |||
|
1 | 1.000 | 0.120 | 6 | 31616154 | non coding transcript exon variant | C/T | snv | 0.15 | 0.14 | 0.710 | 1.000 | 3 | 2007 | 2009 | |||
|
1 | 1.000 | 0.120 | 6 | 33707865 | intron variant | A/G | snv | 0.40 | 0.700 | 1.000 | 3 | 2007 | 2011 | ||||
|
1 | 1.000 | 0.120 | 1 | 17346235 | intron variant | G/A | snv | 0.31 | 0.800 | 1.000 | 3 | 2014 | 2019 | ||||
|
1 | 1.000 | 0.120 | 6 | 31425129 | intron variant | A/G | snv | 5.3E-02 | 0.700 | 1.000 | 3 | 2007 | 2011 | ||||
|
1 | 1.000 | 0.120 | 6 | 33006624 | 3 prime UTR variant | G/C;T | snv | 0.700 | 1.000 | 3 | 2007 | 2011 | |||||
|
1 | 1.000 | 0.120 | 10 | 48889774 | intron variant | G/A | snv | 0.54 | 0.800 | 1.000 | 3 | 2014 | 2019 | ||||
|
1 | 1.000 | 0.120 | 6 | 31926167 | intron variant | G/A | snv | 0.53 | 0.700 | 1.000 | 3 | 2007 | 2011 | ||||
|
1 | 1.000 | 0.120 | 6 | 33315989 | missense variant | T/C | snv | 0.54 | 0.54 | 0.700 | 1.000 | 3 | 2007 | 2011 | |||
|
1 | 1.000 | 0.120 | 6 | 32252908 | upstream gene variant | G/A;T | snv | 0.700 | 1.000 | 3 | 2007 | 2011 | |||||
|
1 | 1.000 | 0.120 | 6 | 33009643 | upstream gene variant | G/T | snv | 0.20 | 0.700 | 1.000 | 3 | 2007 | 2011 | ||||
|
1 | 1.000 | 0.120 | 6 | 31034236 | intron variant | G/A | snv | 0.20 | 0.710 | 1.000 | 3 | 2007 | 2017 | ||||
|
1 | 1.000 | 0.120 | 11 | 128627057 | intron variant | C/T | snv | 0.37 | 0.810 | 1.000 | 3 | 2014 | 2019 | ||||
|
1 | 1.000 | 0.120 | 3 | 58317208 | intron variant | C/T | snv | 4.3E-02 | 0.800 | 1.000 | 3 | 2014 | 2019 |