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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
83 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.160 | 1 | 110235437 | 3 prime UTR variant | A/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.160 | 2 | 223040390 | regulatory region variant | G/T | snv | 0.59 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
12 | 0.752 | 0.160 | 6 | 32668343 | 5 prime UTR variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.827 | 0.160 | 4 | 84811016 | intron variant | C/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
10 | 0.807 | 0.120 | 7 | 116783374 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
108 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.120 | 19 | 47232959 | upstream gene variant | T/C | snv | 0.66 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
15 | 0.732 | 0.320 | 16 | 13949318 | 3 prime UTR variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
13 | 0.763 | 0.200 | 16 | 13919522 | upstream gene variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.120 | 19 | 47228572 | intron variant | C/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
38 | 0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.851 | 0.160 | 4 | 184648878 | intron variant | C/A | snv | 0.35 | 0.010 | 1.000 | 1 | 2019 | 2019 |