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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
29 | 0.658 | 0.400 | 1 | 206776020 | intron variant | A/T | snv | 0.32 | 0.030 | 1.000 | 3 | 2010 | 2015 | ||||
|
4 | 1.000 | 0.120 | 12 | 21229685 | intron variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.160 | 1 | 192571891 | intron variant | G/A | snv | 0.86 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 8 | 128064327 | intron variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.160 | 3 | 124206424 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 12 | 122046634 | intron variant | G/A | snv | 0.39 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.851 | 0.200 | 22 | 36860804 | intron variant | G/A | snv | 0.39 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.160 | 20 | 46073481 | intron variant | T/C | snv | 0.79 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 3 | 122098766 | intron variant | G/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.925 | 0.200 | 1 | 2622185 | intron variant | T/C | snv | 0.40 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.807 | 0.160 | 4 | 15778830 | intron variant | C/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.120 | 14 | 103018488 | intron variant | T/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 5 | 141655607 | intron variant | G/C | snv | 7.1E-02 | 7.8E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
4 | 0.851 | 0.160 | 13 | 50267187 | intron variant | C/T | snv | 0.47 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.120 | 18 | 76995493 | intron variant | A/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
11 | 0.752 | 0.520 | 4 | 122613898 | intron variant | C/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
34 | 0.641 | 0.600 | 6 | 31572536 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.120 | 3 | 122081640 | intron variant | A/C | snv | 0.31 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
6 | 0.827 | 0.160 | 6 | 32697643 | intergenic variant | T/G | snv | 0.13 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 3 | 27752141 | intergenic variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
2 | 0.925 | 0.120 | 5 | 122582513 | intergenic variant | G/T | snv | 0.71 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.160 | 2 | 24471603 | intergenic variant | C/T | snv | 9.3E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 6 | 113750518 | regulatory region variant | A/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2015 | 2015 |