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 | 1 | 175182047 | intron variant | T/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 9 | 27556782 | synonymous variant | G/A | snv | 0.24 | 0.21 | 0.800 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.120 | 14 | 30678292 | intron variant | C/T | snv | 0.46 | 0.720 | 0.750 | 4 | 2016 | 2019 | ||||
|
1 | 1.000 | 0.080 | 14 | 92074037 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.080 | 7 | 154513713 | intron variant | T/C | snv | 0.35 | 0.820 | 0.667 | 3 | 2008 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 156842164 | synonymous variant | A/G | snv | 4.0E-06 | 1.4E-05 | 0.020 | 1.000 | 2 | 2016 | 2017 | |||
|
1 | 1.000 | 0.080 | 18 | 31693166 | intergenic variant | A/G | snv | 0.14 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 5 | 151031274 | intron variant | C/T | snv | 0.66 | 0.710 | 1.000 | 2 | 2017 | 2018 | ||||
|
9 | 0.776 | 0.200 | 5 | 179836445 | missense variant | C/T | snv | 9.8E-04 | 1.3E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
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 | 1 | 28150741 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 11 | 3735207 | missense variant | G/A | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
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 | 18 | 23785889 | intron variant | A/G;T | snv | 0.800 | 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 | ||||
|
72 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
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 | 14 | 20693740 | missense variant | T/C | snv | 0.020 | 0.500 | 2 | 2012 | 2014 | |||||
|
19 | 0.695 | 0.400 | 2 | 138002079 | missense variant | C/T | snv | 1.0E-01 | 8.4E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 |