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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
53 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
12 | 0.752 | 0.400 | 16 | 27344882 | missense variant | A/C;G;T | snv | 0.45 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.827 | 0.120 | 12 | 26336611 | 3 prime UTR variant | G/T | snv | 0.69 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.827 | 0.120 | 11 | 69424973 | upstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
7 | 0.827 | 0.160 | 7 | 116777410 | missense variant | A/C;G | snv | 1.2E-05 | 0.700 | 1.000 | 2 | 2013 | 2014 | ||||
|
2 | 0.925 | 0.120 | 7 | 116777409 | missense variant | C/T | snv | 0.700 | 1.000 | 2 | 2008 | 2014 | |||||
|
3 | 0.925 | 0.120 | 7 | 116783420 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
7 | 0.827 | 0.200 | 7 | 116783360 | missense variant | A/G | snv | 0.700 | 1.000 | 2 | 2002 | 2014 | |||||
|
1 | 1.000 | 0.120 | 1 | 11109304 | missense variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.120 | 1 | 11122122 | missense variant | G/T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.200 | 1 | 11157242 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
9 | 0.776 | 0.240 | 1 | 11124516 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
23 | 0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
32 | 0.641 | 0.440 | 17 | 7674888 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
42 | 0.605 | 0.600 | 6 | 43769749 | upstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
9 | 0.776 | 0.320 | 3 | 10149885 | missense variant | C/G | snv | 2.0E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 |