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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
29 | 0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv | 0.800 | 0.914 | 35 | 2007 | 2019 | |||||
|
62 | 0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 | 0.800 | 0.871 | 31 | 2007 | 2019 | ||||
|
3 | 0.882 | 0.160 | 8 | 127308101 | intron variant | A/G | snv | 0.15 | 0.720 | 1.000 | 3 | 2009 | 2017 | ||||
|
3 | 0.882 | 0.160 | 8 | 127310936 | intron variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2009 | 2011 | |||||
|
31 | 0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 8 | 127328663 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 8 | 127311646 | non coding transcript exon variant | T/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.080 | 8 | 127323428 | intron variant | G/A | snv | 0.36 | 0.030 | 0.667 | 3 | 2009 | 2017 | ||||
|
5 | 0.827 | 0.160 | 8 | 127428925 | intron variant | C/T | snv | 0.45 | 0.030 | 1.000 | 3 | 2008 | 2012 | ||||
|
18 | 0.716 | 0.360 | 8 | 127343372 | intron variant | A/G | snv | 0.43 | 0.020 | 1.000 | 2 | 2008 | 2009 | ||||
|
8 | 0.882 | 0.120 | 8 | 127410882 | intron variant | A/G | snv | 0.52 | 0.020 | 1.000 | 2 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.080 | 8 | 127405259 | intron variant | T/C | snv | 0.47 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 8 | 127311574 | non coding transcript exon variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.080 | 8 | 127448159 | intron variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
14 | 0.732 | 0.240 | 8 | 127412547 | intron variant | A/G | snv | 0.63 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 8 | 127454569 | intron variant | C/T | snv | 0.20 | 0.010 | 1.000 | 1 | 2008 | 2008 |