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 | 17 | 29376331 | intron variant | C/G;T | snv | 0.800 | 1.000 | 3 | 2009 | 2012 | |||||||
|
1 | 4 | 6889792 | intergenic variant | G/C | snv | 0.17 | 0.800 | 1.000 | 2 | 2011 | 2014 | ||||||
|
1 | 20 | 1943088 | upstream gene variant | T/G | snv | 0.46 | 0.800 | 1.000 | 2 | 2009 | 2012 | ||||||
|
1 | 17 | 29387569 | intron variant | C/T | snv | 0.64 | 0.800 | 1.000 | 2 | 2011 | 2014 | ||||||
|
12 | 0.807 | 0.280 | 12 | 111634620 | intergenic variant | A/G | snv | 0.29 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 3 | 171832858 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 17 | 29348208 | upstream gene variant | C/T | snv | 0.43 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 20 | 1944061 | upstream gene variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 11 | 270715 | intergenic variant | T/C | snv | 0.20 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 4 | 126578990 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 12 | 56661507 | downstream gene variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
3 | 0.925 | 0.080 | 9 | 4763176 | downstream gene variant | T/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 11 | 95557690 | regulatory region variant | G/C;T | snv | 0.33 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 20 | 59012716 | intergenic variant | C/T | snv | 0.15 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
7 | 0.925 | 0.080 | 6 | 135111414 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 12 | 111752634 | intron variant | C/A | snv | 0.35 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 2 | 240555596 | intron variant | C/A;G;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 17 | 35617036 | intron variant | C/A;G | snv | 0.21 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 3 | 56831748 | intron variant | A/G | snv | 0.63 | 0.800 | 1.000 | 3 | 2009 | 2012 | ||||||
|
2 | 3 | 56815721 | intron variant | T/C | snv | 0.49 | 0.800 | 1.000 | 2 | 2011 | 2019 | ||||||
|
3 | 0.790 | 0.160 | 12 | 111449855 | 3 prime UTR variant | A/G | snv | 0.27 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 11 | 64281440 | intron variant | C/T | snv | 0.74 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1.000 | 0.120 | 6 | 33572432 | intron variant | A/G | snv | 0.72 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 11 | 202856 | intron variant | G/A | snv | 0.17 | 0.800 | 1.000 | 2 | 2009 | 2012 | ||||||
|
1 | 14 | 105263455 | intron variant | G/A | snv | 0.28 | 0.800 | 1.000 | 1 | 2011 | 2011 |