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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 7 | 92779056 | intron variant | C/T | snv | 0.14 | 0.800 | 1.000 | 7 | 2010 | 2019 | ||||||
|
6 | 6 | 31274397 | intron variant | G/A | snv | 0.44 | 0.800 | 1.000 | 4 | 2011 | 2019 | ||||||
|
3 | 17 | 40000459 | downstream gene variant | C/G;T | snv | 0.800 | 1.000 | 4 | 2011 | 2019 | |||||||
|
2 | 1 | 161976937 | intergenic variant | A/G | snv | 0.33 | 0.800 | 1.000 | 3 | 2011 | 2019 | ||||||
|
1 | 1 | 159092646 | intron variant | G/A | snv | 0.60 | 0.800 | 1.000 | 3 | 2011 | 2019 | ||||||
|
1 | 10 | 71760875 | missense variant | A/C | snv | 0.88 | 0.90 | 0.700 | 1.000 | 3 | 2016 | 2019 | |||||
|
5 | 1 | 36478315 | intron variant | C/G | snv | 0.59 | 0.700 | 1.000 | 3 | 2016 | 2019 | ||||||
|
2 | 17 | 39987295 | intron variant | C/T | snv | 0.56 | 0.700 | 1.000 | 3 | 2010 | 2019 | ||||||
|
2 | 1 | 159001296 | intron variant | A/G | snv | 0.31 | 0.800 | 1.000 | 3 | 2011 | 2019 | ||||||
|
5 | 7 | 28684757 | intron variant | G/T | snv | 0.37 | 0.700 | 1.000 | 3 | 2016 | 2019 | ||||||
|
1 | 1 | 155938032 | upstream gene variant | T/A | snv | 0.48 | 0.800 | 1.000 | 2 | 2011 | 2019 | ||||||
|
3 | 6 | 22343363 | intron variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
5 | 2 | 218156235 | regulatory region variant | C/T | snv | 6.9E-03 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
5 | 6 | 16744456 | intron variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
3 | 16 | 85982722 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
5 | 4 | 74094279 | downstream gene variant | A/G | snv | 0.28 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
9 | 1 | 247438293 | intron variant | T/C | snv | 0.58 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
5 | 8 | 23109256 | intron variant | G/A | snv | 0.83 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
5 | 17 | 40007042 | intergenic variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
7 | 11 | 118210555 | missense variant | C/T | snv | 4.0E-03 | 3.5E-03 | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||
|
5 | 4 | 73838282 | 3 prime UTR variant | C/T | snv | 0.29 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
2 | 3 | 12225304 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
1 | 1 | 161975629 | intergenic variant | C/A | snv | 0.45 | 0.800 | 1.000 | 2 | 2011 | 2019 | ||||||
|
7 | 14 | 24992783 | intron variant | T/C | snv | 0.53 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
5 | 7 | 28237488 | intron variant | C/G;T | snv | 0.70 | 0.700 | 1.000 | 2 | 2016 | 2019 |