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 | 9 | 27490969 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||
|
1 | 1.000 | 0.080 | 12 | 64488187 | intron variant | G/A | snv | 3.0E-02 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||
|
1 | 1.000 | 0.080 | 21 | 44333234 | missense variant | C/A | snv | 8.0E-03 | 9.0E-03 | 0.700 | 1.000 | 2 | 2016 | 2018 | |||
|
1 | 1.000 | 0.080 | 9 | 27561051 | 3 prime UTR variant | T/C | snv | 0.23 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
1 | 1.000 | 0.080 | 1 | 175182047 | intron variant | T/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 14 | 92074037 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 9 | 27468463 | intron variant | C/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 9 | 27557921 | intron variant | T/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 9 | 27510362 | intron variant | C/T | snv | 0.58 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 9 | 27542263 | non coding transcript exon variant | C/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 9 | 27474216 | intron variant | T/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 9 | 27481907 | intron variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 9 | 27482969 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 9 | 27544945 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 11 | 134870879 | intergenic variant | G/A;T | snv | 0.27 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.080 | 12 | 57581917 | missense variant | C/G;T | snv | 4.0E-06; 1.1E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 9 | 27519175 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 1.000 | 0.080 | 1 | 175171183 | intron variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 9 | 27553878 | intron variant | T/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 8 | 125070323 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 2 | 50709898 | intron variant | A/G | snv | 0.54 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 4 | 36077972 | intron variant | T/C | snv | 0.46 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 19 | 17642430 | intron variant | C/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 3 | 131994722 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 6 | 49956357 | downstream gene variant | A/C | snv | 6.3E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 |