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 | 3 | 56831748 | intron variant | A/G | snv | 0.63 | 0.800 | 1.000 | 3 | 2009 | 2012 | ||||||
|
1 | 17 | 29376331 | intron variant | C/G;T | snv | 0.800 | 1.000 | 3 | 2009 | 2012 | |||||||
|
1 | 12 | 54293448 | intron variant | A/C | snv | 0.75 | 0.800 | 1.000 | 2 | 2009 | 2014 | ||||||
|
1 | 18 | 69849609 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2009 | 2012 | |||||||
|
1 | 2 | 31241963 | intron variant | A/G | snv | 0.80 | 0.800 | 1.000 | 2 | 2009 | 2012 | ||||||
|
1 | 10 | 63290899 | intron variant | A/G | snv | 0.38 | 0.800 | 1.000 | 2 | 2011 | 2014 | ||||||
|
1 | 18 | 69849610 | intron variant | A/- | del | 0.53 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||||
|
1 | 17 | 29387569 | intron variant | C/T | snv | 0.64 | 0.800 | 1.000 | 2 | 2011 | 2014 | ||||||
|
1 | 18 | 69849610 | intron variant | A/C | snv | 0.18 | 0.800 | 1.000 | 2 | 2009 | 2012 | ||||||
|
1 | 1 | 112567997 | intron variant | T/C | snv | 0.50 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 5 | 62239297 | intergenic variant | T/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 5 | 76424719 | intron variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 5 | 159177955 | intron variant | G/A | snv | 0.41 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 7 | 106716200 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 3 | 124621375 | intron variant | G/C | snv | 0.43 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 11 | 95095304 | intron variant | TCC/-;TCCTCC | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 9 | 331490 | intron variant | T/G | snv | 0.64 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 9 | 134077014 | upstream gene variant | C/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 5 | 134500603 | upstream gene variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 7 | 76035603 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 9 | 96328727 | intron variant | C/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 12 | 121988737 | intron variant | T/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 10211630 | 5 prime UTR variant | C/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 2 | 108448107 | upstream gene variant | C/T | snv | 0.39 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 3 | 171832858 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2012 | 2012 |