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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 0.827 | 0.120 | 7 | 128939148 | intron variant | T/C | snv | 0.41 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 0.925 | 0.080 | 3 | 160623108 | intergenic variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.080 | 2 | 30206869 | upstream gene variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2011 | 2015 | |||||
|
1 | 0.925 | 0.080 | 11 | 64362250 | intron variant | G/A | snv | 0.29 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 3 | 159992311 | intron variant | A/C;G | snv | 0.800 | 1.000 | 1 | 2012 | 2017 | |||||
|
3 | 0.851 | 0.200 | 11 | 118873063 | intergenic variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2011 | 2015 | |||||
|
1 | 1.000 | 0.080 | 5 | 35885880 | intergenic variant | T/C | snv | 0.21 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 0.925 | 0.080 | 5 | 35852209 | upstream gene variant | G/A | snv | 0.25 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.763 | 0.320 | 11 | 64329761 | upstream gene variant | A/G | snv | 0.28 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.807 | 0.120 | 7 | 37334906 | intron variant | G/A | snv | 0.14 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 17 | 39387196 | intron variant | T/A;G | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 7 | 37333575 | intron variant | T/C | snv | 0.14 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 0.925 | 0.080 | 4 | 98875633 | 3 prime UTR variant | T/C | snv | 0.56 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 0.925 | 0.080 | 14 | 103096858 | intron variant | G/A | snv | 0.38 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 0.925 | 0.080 | 5 | 35942940 | upstream gene variant | A/C | snv | 0.23 | 0.800 | 1.000 | 1 | 2011 | 2015 | ||||
|
4 | 0.827 | 0.240 | 6 | 32697183 | regulatory region variant | A/G | snv | 0.24 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 0.925 | 0.080 | 22 | 39274846 | intron variant | G/T | snv | 0.18 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.763 | 0.200 | 9 | 114796423 | intron variant | C/T | snv | 0.73 | 0.710 | 1.000 | 1 | 2012 | 2016 | ||||
|
1 | 1.000 | 0.080 | 22 | 39280489 | downstream gene variant | T/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 22 | 39280739 | downstream gene variant | G/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 2 | 104907333 | intron variant | C/T | snv | 0.25 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 19 | 46227357 | upstream gene variant | A/G | snv | 0.45 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.160 | 17 | 39910014 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 17 | 39912261 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 20 | 8769415 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 |