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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.724 | 0.200 | 6 | 31398818 | upstream gene variant | C/T | snv | 0.41 | 0.900 | 1.000 | 18 | 2011 | 2019 | ||||
|
7 | 0.790 | 0.280 | 1 | 10325413 | intron variant | A/G | snv | 0.24 | 0.900 | 0.833 | 11 | 2010 | 2019 | ||||
|
54 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.900 | 0.909 | 11 | 2013 | 2019 | ||||
|
6 | 0.807 | 0.200 | 6 | 32698518 | intergenic variant | A/G | snv | 0.15 | 0.850 | 0.800 | 5 | 2013 | 2018 | ||||
|
8 | 0.724 | 0.360 | 6 | 32711222 | upstream gene variant | A/G;T | snv | 0.840 | 1.000 | 4 | 2011 | 2017 | |||||
|
13 | 0.708 | 0.400 | 3 | 41224646 | missense variant | C/A;G;T | snv | 0.820 | 1.000 | 2 | 2016 | 2018 | |||||
|
3 | 0.763 | 0.240 | 3 | 41224645 | missense variant | T/C;G | snv | 0.810 | 1.000 | 1 | 2015 | 2016 | |||||
|
2 | 0.763 | 0.240 | 3 | 41224634 | missense variant | C/A;T | snv | 0.810 | 1.000 | 1 | 2015 | 2016 | |||||
|
1 | 1.000 | 0.080 | 21 | 29773850 | intron variant | A/C;G | snv | 0.810 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 3 | 32978543 | intergenic variant | G/T | snv | 0.73 | 0.810 | 1.000 | 1 | 2010 | 2016 | ||||
|
1 | 0.925 | 0.120 | 6 | 32632222 | intron variant | G/A | snv | 0.55 | 0.810 | 1.000 | 1 | 2012 | 2015 | ||||
|
28 | 0.645 | 0.360 | 17 | 7674216 | missense variant | C/A;G | snv | 0.800 | 1.000 | 22 | 1994 | 2020 | |||||
|
4 | 0.827 | 0.160 | 22 | 31869917 | intron variant | T/G | snv | 0.37 | 0.760 | 1.000 | 6 | 2013 | 2019 | ||||
|
5 | 0.790 | 0.360 | 6 | 32702478 | downstream gene variant | C/T | snv | 0.34 | 0.750 | 1.000 | 5 | 2012 | 2017 | ||||
|
5 | 0.827 | 0.200 | 4 | 166008836 | intron variant | A/T | snv | 0.18 | 0.740 | 1.000 | 4 | 2017 | 2019 | ||||
|
15 | 0.701 | 0.440 | 6 | 33065245 | 3 prime UTR variant | A/G | snv | 0.29 | 0.740 | 0.600 | 4 | 2011 | 2015 | ||||
|
7 | 0.752 | 0.440 | 6 | 32762235 | intron variant | A/G;T | snv | 0.740 | 0.800 | 4 | 2012 | 2018 | |||||
|
13 | 0.724 | 0.440 | 6 | 33087084 | 3 prime UTR variant | A/G | snv | 0.25 | 0.740 | 0.800 | 4 | 2012 | 2015 | ||||
|
62 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.730 | 1.000 | 3 | 2008 | 2019 | ||||
|
43 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 0.720 | 1.000 | 2 | 2008 | 2019 | ||||
|
19 | 0.683 | 0.400 | 17 | 7675143 | missense variant | C/A;T | snv | 4.0E-05 | 0.720 | 1.000 | 2 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.120 | 7 | 90689160 | intron variant | G/C | snv | 0.39 | 0.710 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 0.724 | 0.400 | 17 | 7674238 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 1 | 2004 | 2016 | |||||
|
11 | 0.662 | 0.560 | 17 | 7674229 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.710 | 1.000 | 1 | 2012 | 2016 | ||||
|
13 | 0.645 | 0.360 | 17 | 7674872 | missense variant | T/C;G | snv | 8.0E-06 | 0.710 | 1.000 | 1 | 2016 | 2019 |