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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 7 | 148855364 | intron variant | C/T | snv | 0.76 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
17 | 0.716 | 0.320 | 10 | 121586676 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.851 | 0.080 | 6 | 151597721 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
17 | 0.724 | 0.360 | 13 | 30467458 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.851 | 0.080 | 18 | 26990703 | intron variant | T/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 16 | 46822677 | intron variant | T/C | snv | 0.79 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 19 | 17267350 | intron variant | T/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.882 | 0.120 | 19 | 10146569 | intron variant | G/A | snv | 0.36 | 0.35 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
42 | 0.620 | 0.680 | X | 49261784 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.851 | 0.120 | 7 | 116677823 | intron variant | G/A | snv | 0.87 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
8 | 0.807 | 0.160 | 16 | 52565276 | intron variant | C/T | snv | 0.20 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
60 | 0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.080 | 18 | 26757460 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 18 | 55606383 | intron variant | G/A | snv | 0.94 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 19 | 17266803 | intron variant | C/G | snv | 8.5E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 2 | 52252219 | intron variant | A/T | snv | 2.1E-05 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
6 | 0.807 | 0.120 | 6 | 149287738 | intron variant | G/A | snv | 0.20 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.776 | 0.200 | 14 | 68567965 | intron variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.827 | 0.080 | 12 | 28002147 | intergenic variant | A/G | snv | 8.9E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
21 | 0.708 | 0.280 | 6 | 151627231 | intergenic variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.807 | 0.080 | 2 | 120487546 | intergenic variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.080 | 7 | 152638744 | intergenic variant | A/G | snv | 0.94 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
8 | 0.776 | 0.200 | 14 | 45198718 | stop gained | C/A;T | snv | 4.0E-06; 1.0E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 |