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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.807 | 0.080 | 20 | 22069865 | intron variant | A/G | snv | 0.55 | 0.820 | 1.000 | 3 | 2008 | 2013 | ||||
|
7 | 0.807 | 0.080 | 20 | 22019643 | intergenic variant | C/T | snv | 0.49 | 0.800 | 1.000 | 2 | 2012 | 2016 | ||||
|
7 | 0.807 | 0.080 | 20 | 21872462 | intergenic variant | C/T | snv | 0.58 | 0.800 | 1.000 | 2 | 2008 | 2011 | ||||
|
7 | 0.807 | 0.080 | X | 67343176 | intergenic variant | T/C | snv | 0.37 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||
|
7 | 0.807 | 0.080 | 18 | 45234191 | intron variant | C/A;T | snv | 0.800 | 1.000 | 2 | 2012 | 2017 | |||||
|
7 | 0.807 | 0.080 | 18 | 45220183 | intron variant | C/T | snv | 0.32 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
9 | 0.790 | 0.120 | 17 | 45846853 | synonymous variant | T/C | snv | 0.15 | 0.14 | 0.800 | 1.000 | 1 | 2012 | 2012 | |||
|
7 | 0.807 | 0.080 | 1 | 10973025 | intron variant | A/G | snv | 0.31 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.807 | 0.080 | 7 | 18838251 | intron variant | T/G | snv | 0.43 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.807 | 0.080 | 20 | 22056937 | intron variant | T/C | snv | 0.54 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.807 | 0.080 | X | 67291142 | intergenic variant | G/A | snv | 0.62 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||
|
7 | 0.807 | 0.080 | 7 | 69146973 | intron variant | C/T | snv | 0.68 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.807 | 0.080 | 2 | 238785990 | downstream gene variant | C/A | snv | 0.40 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.807 | 0.080 | 11 | 44389312 | intergenic variant | C/A;G | snv | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||
|
7 | 0.807 | 0.080 | 10 | 76436854 | intron variant | A/G | snv | 0.40 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||
|
7 | 0.807 | 0.080 | 2 | 238787252 | downstream gene variant | C/G | snv | 0.44 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||
|
38 | 0.649 | 0.320 | 6 | 396321 | intron variant | C/T | snv | 0.10 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||
|
7 | 0.807 | 0.080 | 2 | 173740905 | intergenic variant | C/A;G;T | snv | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||
|
2 | 0.925 | 0.080 | 20 | 21899407 | intergenic variant | A/G | snv | 0.64 | 0.700 | 1.000 | 2 | 2008 | 2012 | ||||
|
1 | 1.000 | 0.080 | 20 | 21885513 | intergenic variant | A/G | snv | 0.58 | 0.700 | 1.000 | 2 | 2008 | 2012 | ||||
|
7 | 0.807 | 0.080 | 21 | 34835870 | intron variant | G/A | snv | 0.27 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||
|
7 | 0.807 | 0.080 | 3 | 139313491 | intron variant | T/C | snv | 0.12 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||
|
7 | 0.807 | 0.080 | 12 | 130078818 | intergenic variant | A/T | snv | 0.13 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||
|
1 | 1.000 | 0.080 | 20 | 21937672 | regulatory region variant | G/T | snv | 0.61 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | X | 66196245 | intron variant | G/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2012 | 2012 |