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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.080 | 6 | 71067268 | intergenic variant | G/A | snv | 4.4E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 14 | 56732364 | upstream gene variant | C/T | snv | 8.6E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.080 | 2 | 105998818 | intergenic variant | T/C | snv | 7.1E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 11 | 5008473 | downstream gene variant | C/T | snv | 0.57 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 4 | 122088578 | upstream gene variant | T/C | snv | 9.9E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 9 | 7603506 | intergenic variant | G/C | snv | 0.89 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 6 | 155652652 | downstream gene variant | TTTTT/-;T;TT;TTT;TTTT;TTTTTT;TTTTTTT | delins | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.925 | 0.080 | 6 | 135130426 | intergenic variant | T/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.160 | 22 | 35396981 | upstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.080 | 11 | 113553836 | regulatory region variant | G/T | snv | 0.71 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.882 | 0.200 | 14 | 54912273 | intergenic variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
11 | 0.925 | 0.080 | 6 | 135111414 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.120 | 12 | 48775065 | intron variant | G/C | snv | 0.13 | 0.23 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 2 | 69098684 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
33 | 0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
2 | 0.925 | 0.080 | 11 | 72739679 | intron variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 9 | 130483269 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.882 | 0.120 | 12 | 63153459 | intron variant | T/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.827 | 0.120 | 2 | 60490908 | intron variant | T/C;G | snv | 0.710 | 1.000 | 3 | 2011 | 2019 | |||||
|
6 | 0.925 | 0.080 | 2 | 60492835 | intron variant | C/A | snv | 0.80 | 0.700 | 1.000 | 3 | 2011 | 2014 | ||||
|
12 | 0.752 | 0.280 | 2 | 60493111 | intron variant | C/T | snv | 0.65 | 0.710 | 1.000 | 2 | 2011 | 2016 | ||||
|
11 | 0.790 | 0.400 | 2 | 60493816 | intron variant | A/C;G | snv | 0.710 | 1.000 | 2 | 2011 | 2016 | |||||
|
2 | 1.000 | 0.080 | 2 | 60493622 | intron variant | G/A | snv | 0.64 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 1.000 | 0.080 | 2 | 60486100 | intron variant | A/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2011 | 2011 |