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 | 0.040 | 13 | 43859494 | intron variant | C/A;T | snv | 0.710 | 1.000 | 3 | 2009 | 2016 | |||||
|
10 | 0.763 | 0.200 | 9 | 114796423 | intron variant | C/T | snv | 0.73 | 0.810 | 1.000 | 3 | 2009 | 2016 | ||||
|
3 | 0.882 | 0.040 | 6 | 162792995 | intron variant | A/G | snv | 0.31 | 0.020 | 1.000 | 2 | 2006 | 2012 | ||||
|
1 | 1.000 | 0.040 | 13 | 43904864 | intron variant | A/G | snv | 0.11 | 0.710 | 1.000 | 2 | 2009 | 2016 | ||||
|
2 | 0.925 | 0.040 | 6 | 146597814 | intron variant | G/A | snv | 7.7E-02 | 0.810 | 1.000 | 2 | 2011 | 2016 | ||||
|
50 | 0.590 | 0.760 | 12 | 68158742 | intron variant | T/A | snv | 0.36 | 0.020 | 0.500 | 2 | 2012 | 2014 | ||||
|
3 | 0.925 | 0.040 | 1 | 67131436 | intron variant | G/A | snv | 0.83 | 0.810 | 1.000 | 2 | 2011 | 2016 | ||||
|
5 | 0.882 | 0.160 | 8 | 89766285 | intron variant | G/A | snv | 0.60 | 0.800 | 1.000 | 2 | 2009 | 2011 | ||||
|
1 | 1.000 | 0.040 | 6 | 162730367 | intron variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2012 | 2013 | |||||
|
1 | 1.000 | 0.040 | 19 | 51624491 | intron variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 9 | 115381654 | intron variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.200 | 10 | 8073399 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | 12 | 40031285 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 3 | 183857982 | intron variant | G/A | snv | 0.12 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.080 | 6 | 162792422 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 8 | 89650713 | intron variant | T/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 12 | 40158615 | intron variant | T/C | snv | 0.63 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 6 | 162495517 | intron variant | T/C | snv | 0.31 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 67132294 | intron variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.882 | 0.280 | 2 | 102437989 | intron variant | G/A | snv | 0.78 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 16 | 50680424 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 6 | 31297135 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.040 | 16 | 85802650 | intron variant | T/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 1 | 27371297 | intron variant | -/TATTTGGCC | ins | 0.32 | 0.010 | 1.000 | 1 | 2017 | 2017 |