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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.776 | 0.160 | 10 | 60420054 | intron variant | C/T | snv | 7.5E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 10 | 60167108 | intron variant | C/A | snv | 0.56 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
5 | 0.882 | 0.040 | 10 | 60080073 | intron variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.851 | 0.120 | 1 | 53246063 | 3 prime UTR variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
9 | 0.827 | 0.040 | 3 | 52799203 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
6 | 0.851 | 0.160 | 22 | 50626976 | missense variant | A/C | snv | 2.3E-04 | 2.8E-04 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
3 | 0.925 | 0.080 | 7 | 50504025 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
11 | 0.776 | 0.200 | 20 | 4699875 | missense variant | G/A | snv | 8.0E-03 | 2.2E-03 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
48 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 4 | 46332685 | splice region variant | A/G;T | snv | 0.44 | 0.41 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 1.000 | 0.080 | 4 | 46332192 | intron variant | A/G | snv | 0.46 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.851 | 0.080 | 4 | 46312576 | synonymous variant | T/C | snv | 0.40 | 0.38 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.882 | 0.080 | 4 | 46303716 | intron variant | T/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
42 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.030 | 1.000 | 3 | 2016 | 2019 | |||||
|
16 | 0.776 | 0.120 | 17 | 46010388 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2011 | 2016 | |||||
|
5 | 0.925 | 0.080 | 17 | 45807036 | synonymous variant | C/T | snv | 3.1E-02 | 3.0E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
4 | 21 | 45216929 | intron variant | C/T | snv | 0.46 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
33 | 0.763 | 0.320 | 8 | 43161462 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 18 | 4127583 | intron variant | A/C;T | snv | 0.22 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
78 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
51 | 0.695 | 0.360 | 21 | 37472869 | frameshift variant | TAAC/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 9 | 35685750 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
13 | 0.827 | 0.080 | 6 | 35678658 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
31 | 0.708 | 0.320 | 6 | 35639794 | intron variant | T/A;C | snv | 0.030 | 1.000 | 3 | 2012 | 2017 | |||||
|
16 | 0.763 | 0.080 | 6 | 35599305 | intron variant | A/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2017 | 2017 |