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 | 0.827 | 0.120 | 11 | 69424973 | upstream gene variant | G/A;C | snv | 0.830 | 1.000 | 7 | 2011 | 2019 | |||||
|
6 | 0.882 | 0.120 | 12 | 26300350 | intron variant | A/G | snv | 0.27 | 0.840 | 0.833 | 6 | 2012 | 2019 | ||||
|
2 | 0.925 | 0.120 | 2 | 46310465 | intron variant | A/G | snv | 0.52 | 0.830 | 1.000 | 5 | 2011 | 2019 | ||||
|
5 | 0.827 | 0.120 | 12 | 26336611 | 3 prime UTR variant | G/T | snv | 0.69 | 0.820 | 1.000 | 4 | 2012 | 2019 | ||||
|
3 | 0.925 | 0.120 | 2 | 46306237 | intron variant | T/A;C;G | snv | 0.810 | 1.000 | 4 | 2011 | 2019 | |||||
|
2 | 0.925 | 0.120 | 12 | 124836304 | intron variant | C/T | snv | 0.38 | 0.810 | 1.000 | 3 | 2011 | 2017 | ||||
|
2 | 0.925 | 0.120 | 7 | 116699228 | synonymous variant | G/A | snv | 3.3E-02 | 3.3E-02 | 0.020 | 1.000 | 2 | 2013 | 2014 | |||
|
1 | 1.000 | 0.120 | 2 | 144450626 | intron variant | T/C | snv | 6.1E-02 | 0.800 | 1.000 | 2 | 2013 | 2017 | ||||
|
1 | 1.000 | 0.120 | 2 | 46308785 | intron variant | C/A | snv | 0.61 | 0.800 | 1.000 | 2 | 2011 | 2019 | ||||
|
2 | 0.925 | 0.120 | 14 | 72812712 | intron variant | T/C | snv | 0.23 | 0.710 | 1.000 | 2 | 2017 | 2019 | ||||
|
1 | 1.000 | 0.120 | 2 | 144452349 | intron variant | C/T | snv | 5.9E-02 | 0.800 | 1.000 | 2 | 2013 | 2015 | ||||
|
1 | 1.000 | 0.120 | 5 | 32000377 | intron variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.120 | 17 | 17215072 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.120 | 2 | 46298957 | intron variant | T/C | snv | 0.58 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 6 | 147830941 | intron variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.120 | 1 | 11157172 | missense variant | G/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.851 | 0.120 | 7 | 151490964 | missense variant | A/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.120 | 8 | 73946733 | missense variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.120 | 8 | 73946734 | missense variant | A/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.120 | 17 | 17228023 | missense variant | G/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 12 | 26377610 | intron variant | T/A;C | snv | 0.40 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 2 | 46300677 | intron variant | A/G | snv | 0.62 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 11 | 69423355 | upstream gene variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.120 | 17 | 17228135 | frameshift variant | C/- | del | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.120 | 4 | 99417185 | intron variant | A/G | snv | 0.22 | 0.010 | < 0.001 | 1 | 2018 | 2018 |