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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.040 | 10 | 60080073 | intron variant | C/T | snv | 0.30 | 0.070 | 0.857 | 7 | 2009 | 2018 | ||||
|
3 | 0.882 | 0.040 | 10 | 60540625 | intron variant | A/G | snv | 8.3E-02 | 0.840 | 1.000 | 6 | 2011 | 2017 | ||||
|
1 | 1.000 | 0.040 | 12 | 2310730 | intron variant | A/T | snv | 0.82 | 0.810 | 1.000 | 4 | 2011 | 2017 | ||||
|
7 | 0.827 | 0.040 | 10 | 60462349 | intron variant | T/C | snv | 8.0E-02 | 0.810 | 1.000 | 3 | 2013 | 2014 | ||||
|
5 | 0.851 | 0.040 | 10 | 60519366 | intron variant | C/T | snv | 9.5E-02 | 0.800 | 1.000 | 3 | 2011 | 2014 | ||||
|
2 | 0.925 | 0.040 | 16 | 23622705 | intron variant | A/C;G | snv | 0.810 | 1.000 | 3 | 2007 | 2011 | |||||
|
7 | 0.851 | 0.040 | 1 | 78772330 | intergenic variant | T/C | snv | 0.29 | 0.800 | 1.000 | 3 | 2013 | 2014 | ||||
|
2 | 0.925 | 0.040 | 4 | 94435177 | intergenic variant | G/A | snv | 0.63 | 0.020 | 1.000 | 2 | 2005 | 2009 | ||||
|
1 | 1.000 | 0.040 | 11 | 66783531 | intron variant | G/A;C | snv | 0.800 | 1.000 | 2 | 2011 | 2018 | |||||
|
3 | 0.882 | 0.040 | 10 | 60421370 | intron variant | G/A | snv | 7.5E-02 | 0.800 | 1.000 | 2 | 2011 | 2014 | ||||
|
1 | 1.000 | 0.040 | 10 | 18365098 | intron variant | A/C;G | snv | 0.11 | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||
|
2 | 1.000 | 0.040 | 10 | 113120792 | intron variant | A/T | snv | 0.57 | 0.710 | 1.000 | 2 | 2014 | 2016 | ||||
|
1 | 1.000 | 0.040 | 15 | 38703290 | intron variant | A/G | snv | 0.24 | 0.800 | 1.000 | 2 | 2008 | 2011 | ||||
|
1 | 1.000 | 0.040 | 6 | 98106018 | intron variant | G/A | snv | 0.39 | 0.800 | 1.000 | 2 | 2014 | 2016 | ||||
|
1 | 1.000 | 0.040 | 11 | 79351885 | intron variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
5 | 0.882 | 0.040 | 6 | 27742386 | upstream gene variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
1 | 1.000 | 0.040 | 11 | 79372205 | intron variant | C/T | snv | 0.18 | 0.700 | 1.000 | 2 | 2013 | 2014 | ||||
|
3 | 0.882 | 0.040 | 22 | 38294883 | intron variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2012 | 2018 | |||||
|
1 | 1.000 | 0.040 | 3 | 52780240 | non coding transcript exon variant | T/A | snv | 0.44; 3.1E-03; 1.5E-04; 1.0E-05 | 0.42 | 0.700 | 1.000 | 2 | 2017 | 2019 | |||
|
9 | 0.827 | 0.040 | 3 | 52799203 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2013 | 2019 | |||||
|
3 | 0.925 | 0.040 | 2 | 112496 | intergenic variant | A/C;T | snv | 0.710 | 1.000 | 2 | 2012 | 2017 | |||||
|
2 | 0.925 | 0.040 | 7 | 103545430 | intron variant | C/A | snv | 0.32 | 0.020 | 1.000 | 2 | 2010 | 2011 | ||||
|
2 | 0.925 | 0.040 | 3 | 52609669 | synonymous variant | T/C | snv | 0.39 | 0.34 | 0.700 | 1.000 | 2 | 2013 | 2013 | |||
|
2 | 0.925 | 0.040 | 10 | 60145969 | splice region variant | T/C | snv | 7.6E-03 | 8.2E-03 | 0.020 | 1.000 | 2 | 2016 | 2018 | |||
|
2 | 0.925 | 0.040 | Y | 1614890 | upstream gene variant | G/A | snv | 0.020 | 1.000 | 2 | 2012 | 2014 |