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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 0.917 | 12 | 2000 | 2019 | |||||
|
17 | 0.752 | 0.440 | 1 | 169594713 | missense variant | T/G | snv | 8.2E-02 | 7.5E-02 | 0.020 | 1.000 | 2 | 2007 | 2017 | |||
|
1 | 12 | 114940232 | intergenic variant | T/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
20 | 0.716 | 0.320 | 6 | 108659993 | intron variant | T/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 9 | 37129499 | intron variant | T/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 0.851 | 0.120 | 13 | 71854515 | intron variant | T/G | snv | 0.30 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
93 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 2 | 25018517 | intron variant | T/G | snv | 5.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 20 | 63852557 | intergenic variant | T/G | snv | 0.57 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 8 | 75804502 | intergenic variant | T/G | snv | 0.77 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 8 | 27432501 | intron variant | T/G | snv | 7.4E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
47 | 0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
5 | 6 | 150654176 | intron variant | T/G | snv | 8.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 1.000 | 0.040 | 1 | 26842709 | intron variant | T/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 20 | 59131469 | intron variant | T/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 10 | 61755923 | intron variant | T/G | snv | 9.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
6 | 1.000 | 0.080 | 12 | 4275678 | intron variant | T/G | snv | 1.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
48 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 0.080 | 0.875 | 8 | 2005 | 2019 | ||||
|
83 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 0.710 | 1.000 | 2 | 2014 | 2019 | ||||
|
1 | 13 | 41275595 | intergenic variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
12 | 0.807 | 0.240 | 5 | 75360714 | 3 prime UTR variant | T/C;G | snv | 0.37 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.882 | 0.120 | 9 | 22116072 | intron variant | T/C;G | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
8 | 0.827 | 0.160 | 10 | 16877053 | missense variant | T/C;G | snv | 8.9E-02; 8.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 17 | 58378280 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
10 | 0.925 | 0.040 | 12 | 89619312 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |