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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 3 | 195867623 | missense variant | C/T | snv | 1.4E-02 | 1.1E-02 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 5 | 75998585 | intergenic variant | C/A;T | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
6 | 0.827 | 0.120 | 19 | 38894892 | intron variant | T/C | snv | 0.68 | 0.67 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
27 | 0.658 | 0.560 | 9 | 117715853 | 3 prime UTR variant | G/C | snv | 0.11 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 17 | 42494785 | mature miRNA variant | G/A;T | snv | 0.24; 2.8E-05 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
11 | 0.763 | 0.200 | 9 | 35065363 | missense variant | C/A;G;T | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
11 | 0.752 | 0.200 | 9 | 35065364 | missense variant | G/A;C;T | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
83 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.080 | 9 | 83666280 | intron variant | A/C;G | snv | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||||
|
2 | 1.000 | 0.040 | 8 | 86507057 | missense variant | T/A | snv | 1.4E-05 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 22 | 38112165 | missense variant | G/C | snv | 8.6E-04 | 2.5E-04 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
3 | 0.925 | 0.120 | 1 | 180993146 | intron variant | A/G | snv | 0.56 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 4 | 112514858 | missense variant | G/C | snv | 1.1E-03 | 1.3E-03 | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.040 | 10 | 68573798 | missense variant | C/T | snv | 4.2E-03 | 1.8E-03 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
6 | 0.827 | 0.120 | 11 | 1761364 | missense variant | G/A | snv | 7.0E-02 | 6.2E-02 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
73 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
8 | 0.807 | 0.280 | 6 | 32857313 | missense variant | G/A;T | snv | 0.24; 4.1E-06; 4.1E-06 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
8 | 0.827 | 0.160 | 11 | 636784 | upstream gene variant | T/C;G | snv | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 3 | 184321987 | missense variant | C/A | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.080 | 9 | 133638697 | intron variant | T/C | snv | 0.61 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 4 | 112515310 | missense variant | C/A;G;T | snv | 1.5E-03; 1.5E-05 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
14 | 0.752 | 0.200 | 12 | 111783219 | missense variant | G/A | snv | 6.8E-05 | 7.7E-05 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
3 | 0.882 | 0.080 | 9 | 133650175 | intron variant | C/G;T | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 17 | 45981562 | intron variant | G/A | snv | 0.30 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
12 | 0.742 | 0.320 | 15 | 74755085 | synonymous variant | T/C | snv | 0.57 | 0.010 | < 0.001 | 1 | 2011 | 2011 |