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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.120 | 10 | 117226885 | TF binding site variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
12 | 0.807 | 0.200 | 7 | 12229791 | missense variant | C/A;G | snv | 0.49 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
16 | 0.742 | 0.200 | 7 | 12244161 | downstream gene variant | A/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
31 | 0.742 | 0.320 | 18 | 12337505 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 12 | 13683379 | intron variant | G/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 12 | 13885069 | intron variant | G/A | snv | 0.39 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
16 | 0.752 | 0.120 | 1 | 192812042 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
26 | 0.807 | 0.200 | 19 | 35729980 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
38 | 0.742 | 0.280 | 22 | 38113561 | missense variant | G/A | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
3 | 1.000 | 0.040 | 12 | 40310449 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
78 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.020 | 1.000 | 2 | 2010 | 2014 | |||
|
8 | 0.827 | 0.120 | 14 | 73173644 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
33 | 0.752 | 0.200 | 14 | 73217137 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
35 | 0.716 | 0.320 | 9 | 97675476 | frameshift variant | AGTCTTACGGTACA/- | delins | 6.8E-05 | 6.3E-05 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.120 | 16 | 9768699 | intron variant | G/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
35 | 0.716 | 0.320 | 9 | 97687208 | inframe deletion | ATTCTT/- | delins | 0.700 | 0 |