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 | 0.925 | 0.080 | 22 | 37532179 | intergenic variant | A/C | snv | 0.15 | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||
|
11 | 0.752 | 0.360 | 22 | 23893562 | intron variant | -/ATTC | delins | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
44 | 0.611 | 0.720 | 22 | 23894205 | intron variant | G/C | snv | 0.26 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
6 | 0.807 | 0.200 | 21 | 44289773 | stop gained | C/A;T | snv | 7.5E-04 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
92 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.720 | 1.000 | 2 | 2014 | 2017 | ||||
|
4 | 0.882 | 0.080 | 12 | 111449163 | 3 prime UTR variant | T/A | snv | 3.2E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.080 | 12 | 111444681 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
10 | 0.790 | 0.160 | 12 | 111449855 | 3 prime UTR variant | A/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
47 | 0.600 | 0.680 | 6 | 31574705 | upstream gene variant | C/T | snv | 8.5E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
20 | 0.701 | 0.480 | 6 | 32638107 | intron variant | C/T | snv | 3.3E-03 | 0.710 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.851 | 0.160 | 6 | 32666690 | 5 prime UTR variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.790 | 0.280 | 6 | 33087030 | 3 prime UTR variant | A/G | snv | 0.38 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
13 | 0.732 | 0.400 | 5 | 151077924 | intron variant | G/C | snv | 0.44 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
23 | 0.672 | 0.560 | 4 | 122456825 | upstream gene variant | A/C | snv | 0.24 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
6 | 0.807 | 0.320 | 4 | 122456327 | synonymous variant | C/A | snv | 0.36 | 0.29 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 2 | 203933067 | upstream gene variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.763 | 0.400 | 2 | 191105394 | intron variant | C/G | snv | 0.77 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
108 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.080 | 1 | 113863829 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 |