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 | 0.120 | 1 | 56494451 | intron variant | C/T | snv | 8.7E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 1 | 108130783 | downstream gene variant | A/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.160 | 1 | 20704549 | missense variant | T/C;G | snv | 0.12; 4.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 1 | 18907640 | 3 prime UTR variant | A/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 2 | 31179541 | intron variant | G/A | snv | 4.8E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
11 | 0.790 | 0.400 | 2 | 60493816 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 2 | 31220009 | intron variant | C/T | snv | 5.4E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 2 | 31188421 | intron variant | T/C | snv | 4.1E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 3 | 176312308 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 1.000 | 0.120 | 4 | 76499631 | intron variant | C/T | snv | 0.43 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.160 | 5 | 111069977 | upstream gene variant | A/G | snv | 0.51 | 0.720 | 1.000 | 2 | 2010 | 2015 | ||||
|
1 | 1.000 | 0.120 | 5 | 111072481 | intron variant | C/A | snv | 0.13 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 5 | 116845732 | regulatory region variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.882 | 0.160 | 5 | 111099792 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 5 | 111089365 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
7 | 0.807 | 0.360 | 5 | 111071044 | 5 prime UTR variant | C/A;T | snv | 0.40 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 5 | 124955709 | intron variant | T/C | snv | 0.85 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.280 | 5 | 135158291 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.200 | 6 | 31840659 | downstream gene variant | C/T | snv | 7.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
13 | 0.851 | 0.320 | 6 | 135097880 | intron variant | T/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.120 | 7 | 28137682 | intron variant | C/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 8 | 11101029 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.120 | 10 | 20576228 | intergenic variant | A/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 11 | 86393453 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
14 | 0.732 | 0.280 | 11 | 76588150 | upstream gene variant | G/T | snv | 0.52 | 0.700 | 1.000 | 1 | 2014 | 2014 |