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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.080 | 4 | 46196917 | intergenic variant | G/T | snv | 0.47 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
83 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 0.060 | 1.000 | 6 | 2013 | 2018 | ||||
|
7 | 0.882 | 0.080 | 4 | 99307860 | missense variant | G/A | snv | 1.5E-02 | 5.9E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.080 | 4 | 99341085 | intron variant | C/T | snv | 1.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
20 | 0.724 | 0.240 | 4 | 99339632 | missense variant | T/A;C | snv | 0.35 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 22 | 36237790 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
3 | 0.882 | 0.080 | 12 | 27363909 | intron variant | T/G | snv | 0.29 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.807 | 0.200 | 12 | 27348173 | intron variant | G/A | snv | 0.43 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.080 | 12 | 27402904 | intron variant | C/T | snv | 0.37 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.030 | 1.000 | 3 | 2010 | 2018 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.030 | 1.000 | 3 | 2010 | 2018 | ||||
|
42 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 4 | 55453183 | 3 prime UTR variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.120 | 4 | 55452605 | 3 prime UTR variant | T/C | snv | 0.58 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 1.000 | 0.080 | 5 | 76954762 | intron variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
12 | 0.790 | 0.120 | 17 | 45802681 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
7 | 0.827 | 0.160 | 5 | 175443147 | 5 prime UTR variant | C/T | snv | 0.68 | 0.72 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 1.000 | 0.080 | 4 | 46270789 | intron variant | G/A | snv | 7.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.851 | 0.080 | 4 | 46312576 | synonymous variant | T/C | snv | 0.40 | 0.38 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
5 | 0.882 | 0.080 | 4 | 46303716 | intron variant | T/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.080 | 4 | 46389047 | 5 prime UTR variant | T/C | snv | 5.4E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 4 | 46080161 | intron variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.120 | 8 | 11722293 | intron variant | A/G | snv | 0.83 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 8 | 11729725 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 |