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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.763 | 0.240 | 22 | 19942598 | intron variant | A/G | snv | 0.23 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
3 | 0.925 | 0.160 | 10 | 102604895 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 10 | 34202922 | intron variant | G/A | snv | 0.20 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 236884786 | intron variant | A/C | snv | 0.56 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 26725589 | intron variant | G/A | snv | 0.30 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 1.000 | 0.080 | 1 | 84100906 | intron variant | A/G | snv | 0.41 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 10 | 34196864 | intron variant | T/C | snv | 2.0E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 14 | 64453947 | intron variant | G/A | snv | 0.17 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
28 | 0.752 | 0.280 | 16 | 53767042 | intron variant | T/C | snv | 0.31 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
10 | 0.790 | 0.360 | 1 | 11792243 | intron variant | C/G;T | snv | 4.0E-06; 0.26 | 0.23 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 8 | 72830736 | intron variant | G/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 14 | 64386187 | intron variant | C/T | snv | 0.92 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
3 | 0.925 | 0.120 | 7 | 128252927 | intron variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
16 | 0.790 | 0.320 | 11 | 2818521 | intron variant | C/T | snv | 9.2E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 11 | 112981742 | intron variant | T/C | snv | 0.45 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
1 | 3 | 126131662 | intron variant | G/A | snv | 0.64 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 10 | 34606401 | intron variant | T/C | snv | 0.10 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 0.925 | 0.080 | 2 | 169348336 | intron variant | C/T | snv | 0.45 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 9 | 133671511 | intron variant | G/A;C | snv | 0.53; 1.1E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.160 | 6 | 10400802 | intron variant | AGA/- | delins | 6.8E-02 | 6.9E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 1.000 | 0.080 | 10 | 113138334 | intron variant | T/C | snv | 0.71 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 6 | 150898848 | intron variant | -/A;ATA;ATTATG | ins | 5.8E-05; 4.3E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 20 | 44642461 | intron variant | G/T | snv | 0.28 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 3 | 126131258 | intron variant | C/T | snv | 0.64 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
19 | 0.752 | 0.400 | 2 | 135851076 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 |