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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
3 | 0.882 | 0.200 | X | 12870008 | intron variant | A/G | snv | 0.11 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
33 | 0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
52 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
17 | 0.724 | 0.280 | 2 | 162254026 | regulatory region variant | A/G | snv | 0.46 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
23 | 0.689 | 0.560 | 1 | 247425556 | missense variant | C/A | snv | 3.9E-02 | 3.3E-02 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.080 | 8 | 23204120 | intron variant | T/C | snv | 0.19 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
22 | 0.708 | 0.520 | 14 | 35401887 | 3 prime UTR variant | C/T | snv | 0.45 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
11 | 0.752 | 0.320 | 2 | 118078449 | regulatory region variant | C/G | snv | 0.70 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
5 | 0.851 | 0.160 | 19 | 39254506 | downstream gene variant | C/A;G;T | snv | 0.020 | 0.500 | 2 | 2011 | 2012 | |||||
|
24 | 0.677 | 0.480 | 2 | 241851281 | missense variant | G/A | snv | 9.2E-02 | 4.3E-02 | 0.020 | 0.500 | 2 | 2015 | 2018 | |||
|
8 | 0.807 | 0.280 | 2 | 241859444 | upstream gene variant | C/T | snv | 5.4E-02 | 0.020 | 0.500 | 2 | 2015 | 2018 | ||||
|
4 | 0.851 | 0.160 | 9 | 99149374 | 3 prime UTR variant | A/G | snv | 0.17 | 0.020 | 0.500 | 2 | 2014 | 2017 | ||||
|
22 | 0.724 | 0.240 | 1 | 159205564 | missense variant | G/A | snv | 0.51 | 0.66 | 0.030 | 0.667 | 3 | 2011 | 2019 | |||
|
22 | 0.689 | 0.320 | 19 | 54173068 | missense variant | T/A;C;G | snv | 0.030 | 0.667 | 3 | 2016 | 2019 | |||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.100 | 0.882 | 17 | 1998 | 2020 | |||
|
26 | 0.667 | 0.400 | 20 | 3213196 | missense variant | C/A;G | snv | 7.5E-02 | 0.100 | 0.900 | 10 | 2011 | 2018 | ||||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.100 | 0.905 | 21 | 2011 | 2019 | |||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.100 | 0.929 | 14 | 2000 | 2010 | |||
|
60 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 0.100 | 0.965 | 113 | 2010 | 2019 | ||||
|
84 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 0.100 | 0.969 | 196 | 2009 | 2019 | ||||
|
23 | 0.701 | 0.360 | 19 | 39241143 | upstream gene variant | A/G | snv | 0.36 | 0.100 | 1.000 | 18 | 2011 | 2019 | ||||
|
15 | 0.742 | 0.280 | 19 | 39248514 | frameshift variant | TT/G;T | delins | 0.100 | 1.000 | 18 | 2014 | 2019 | |||||
|
18 | 0.724 | 0.200 | 6 | 31398818 | upstream gene variant | C/T | snv | 0.41 | 0.100 | 1.000 | 10 | 2012 | 2019 | ||||
|
51 | 0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 | 0.070 | 1.000 | 7 | 2009 | 2016 |