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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.882 | 0.080 | 6 | 43774362 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 0.030 | 1.000 | 3 | 2002 | 2011 | |||
|
82 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 0.030 | 1.000 | 3 | 2013 | 2019 | ||||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.030 | 1.000 | 3 | 2012 | 2019 | |||||
|
42 | 0.605 | 0.600 | 6 | 43769749 | upstream gene variant | C/G;T | snv | 0.030 | 0.667 | 3 | 2013 | 2016 | |||||
|
1 | 6 | 43770833 | missense variant | G/A | snv | 1.6E-05 | 0.020 | 1.000 | 2 | 2015 | 2015 | ||||||
|
62 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
4 | 0.925 | 0.040 | 6 | 43778482 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
2 | 6 | 43782078 | missense variant | G/A | snv | 3.6E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 6 | 43777618 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 6 | 43770888 | missense variant | G/C | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||||
|
2 | 1.000 | 0.040 | 6 | 43784546 | stop lost | A/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.080 | 6 | 43770762 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 |