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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
42 | 0.605 | 0.600 | 6 | 43769749 | upstream gene variant | C/G;T | snv | 0.060 | 0.833 | 6 | 2009 | 2019 | |||||
|
82 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 0.050 | 0.800 | 5 | 2009 | 2019 | ||||
|
3 | 0.882 | 0.200 | 6 | 43772941 | intron variant | T/A;C | snv | 0.040 | 1.000 | 4 | 2012 | 2014 | |||||
|
62 | 0.576 | 0.720 | 6 | 43784799 | 3 prime UTR variant | C/T | snv | 0.13 | 0.030 | 1.000 | 3 | 2013 | 2016 | ||||
|
13 | 0.752 | 0.480 | 6 | 43777358 | non coding transcript exon variant | C/A | snv | 0.31 | 0.020 | < 0.001 | 2 | 2010 | 2016 | ||||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.020 | < 0.001 | 2 | 2013 | 2016 | |||||
|
5 | 0.851 | 0.200 | 6 | 43774842 | non coding transcript exon variant | T/C;G | snv | 0.020 | 1.000 | 2 | 2010 | 2015 | |||||
|
1 | 1.000 | 0.040 | 6 | 43780784 | missense variant | C/A;T | snv | 4.0E-06; 2.8E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.882 | 0.120 | 6 | 43777370 | non coding transcript exon variant | G/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
6 | 0.807 | 0.360 | 6 | 43783338 | non coding transcript exon variant | A/G | snv | 0.18 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
6 | 0.827 | 0.200 | 6 | 43782077 | missense variant | C/G;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
4 | 0.851 | 0.120 | 6 | 43774790 | non coding transcript exon variant | G/A | snv | 0.36 | 0.010 | 1.000 | 1 | 2019 | 2019 |