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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.807 | 0.280 | 7 | 98187015 | intron variant | C/T | snv | 0.41 | 0.37 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
4 | 0.851 | 0.160 | 5 | 95896837 | intron variant | G/A | snv | 0.38 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
12 | 0.763 | 0.440 | 14 | 95087805 | 3 prime UTR variant | T/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
24 | 0.662 | 0.640 | 14 | 95087025 | 3 prime UTR variant | A/G | snv | 8.7E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
41 | 0.605 | 0.600 | 8 | 89978251 | missense variant | C/G | snv | 0.35 | 0.31 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.160 | 16 | 85951755 | downstream gene variant | A/C | snv | 0.76 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.120 | 10 | 8059964 | intron variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 10 | 8051222 | non coding transcript exon variant | T/A;C;G | snv | 0.81 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 10 | 8051071 | non coding transcript exon variant | G/T | snv | 0.87 | 0.86 | 0.800 | 1.000 | 2 | 2010 | 2013 | |||
|
1 | 1.000 | 0.120 | 10 | 8050720 | non coding transcript exon variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.020 | 0.500 | 2 | 2011 | 2012 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 0.500 | 2 | 2011 | 2012 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.020 | 0.500 | 2 | 2011 | 2012 | |||||
|
4 | 0.851 | 0.160 | 12 | 74276187 | intron variant | T/C | snv | 1.5E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.851 | 0.160 | 16 | 68822081 | stop gained | C/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
9 | 0.790 | 0.360 | 10 | 67906841 | synonymous variant | T/C | snv | 0.11 | 7.1E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
10 | 0.790 | 0.440 | 10 | 67903362 | intron variant | C/G | snv | 0.64 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
12 | 0.742 | 0.440 | 10 | 67863299 | upstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.020 | 1.000 | 2 | 2005 | 2012 | |||
|
1 | 1.000 | 0.120 | 2 | 60839531 | intron variant | G/A | snv | 0.69 | 0.800 | 1.000 | 2 | 2010 | 2013 | ||||
|
12 | 0.742 | 0.360 | 12 | 57108399 | intron variant | C/T | snv | 0.32 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.827 | 0.160 | 4 | 55089802 | missense variant | C/T | snv | 5.3E-04 | 4.1E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
187 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
7 | 0.807 | 0.200 | 9 | 5070058 | splice region variant | T/C | snv | 3.6E-04 | 1.1E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 |