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 | 0.040 | 11 | 113772271 | intron variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 6 | 28344679 | intron variant | C/T | snv | 5.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 28336792 | splice region variant | A/G | snv | 5.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
15 | 0.752 | 0.400 | 11 | 116790676 | missense variant | C/A;T | snv | 6.4E-03; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
47 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 0.830 | 1.000 | 7 | 2011 | 2018 | ||||
|
10 | 0.882 | 0.080 | 11 | 116781707 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 6 | 30060829 | non coding transcript exon variant | C/A | snv | 9.8E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 1.000 | 0.040 | 20 | 59183665 | intron variant | A/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
8 | 0.925 | 0.040 | 17 | 49363104 | intron variant | A/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 19 | 11617987 | 3 prime UTR variant | A/G | snv | 0.24 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.040 | 20 | 53581801 | synonymous variant | T/A | snv | 0.11 | 8.8E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.882 | 0.040 | 20 | 53577121 | missense variant | G/A | snv | 3.4E-02 | 1.6E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 6 | 27371111 | upstream gene variant | C/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 28087717 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.120 | 8 | 105802189 | missense variant | A/C;G | snv | 4.9E-04; 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 8 | 105802747 | stop gained | C/G;T | snv | 1.1E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.080 | 16 | 72958864 | missense variant | T/C;G | snv | 1.2E-05; 7.1E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
11 | 0.763 | 0.160 | 16 | 73017721 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
16 | 0.851 | 0.120 | 16 | 72963084 | intron variant | C/T | snv | 0.94 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
16 | 0.851 | 0.120 | 12 | 122479003 | intron variant | C/T | snv | 5.9E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
21 | 0.752 | 0.240 | 7 | 130023656 | missense variant | C/A;T | snv | 4.0E-06; 0.28 | 0.810 | 1.000 | 5 | 2011 | 2017 | ||||
|
1 | 1.000 | 0.040 | 6 | 28587673 | non coding transcript exon variant | C/T | snv | 3.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 6 | 28606638 | intron variant | T/C | snv | 0.89 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
6 | 0.827 | 0.120 | 8 | 11187652 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 |