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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.100 | 0.944 | 89 | 2009 | 2020 | |||
|
42 | 0.630 | 0.440 | 19 | 19268740 | missense variant | C/T | snv | 6.5E-02 | 5.8E-02 | 0.100 | 1.000 | 19 | 2015 | 2020 | |||
|
84 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 0.080 | 0.875 | 8 | 2011 | 2017 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.060 | 1.000 | 6 | 2005 | 2014 | |||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.060 | 0.833 | 6 | 2006 | 2012 | |||
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.040 | 1.000 | 4 | 2012 | 2018 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.030 | 0.667 | 3 | 1998 | 2009 | |||
|
62 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.030 | 1.000 | 3 | 2013 | 2018 | ||||
|
60 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 0.030 | 1.000 | 3 | 2013 | 2017 | ||||
|
3 | 0.882 | 0.040 | 1 | 219275036 | downstream gene variant | C/T | snv | 0.19 | 0.020 | 1.000 | 2 | 2013 | 2017 | ||||
|
5 | 0.827 | 0.120 | 8 | 11826954 | intron variant | A/C;G | snv | 0.56 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
19 | 0.732 | 0.200 | 15 | 89318986 | missense variant | G/A | snv | 2.0E-05 | 0.700 | 1.000 | 2 | 2010 | 2011 | ||||
|
7 | 0.807 | 0.200 | 11 | 116829453 | upstream gene variant | C/T | snv | 0.51 | 0.020 | 1.000 | 2 | 2012 | 2017 | ||||
|
10 | 0.790 | 0.160 | 22 | 43937814 | intron variant | T/G | snv | 0.20 | 0.710 | 1.000 | 2 | 2012 | 2018 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 1.000 | 2 | 2013 | 2014 | |||||
|
7 | 0.827 | 0.160 | 19 | 54173307 | upstream gene variant | C/G | snv | 0.61 | 0.020 | 0.500 | 2 | 2017 | 2018 | ||||
|
4 | 0.851 | 0.080 | 22 | 43940218 | intron variant | T/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
7 | 0.790 | 0.200 | 4 | 141733279 | 3 prime UTR variant | A/T | snv | 0.54 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
10 | 0.776 | 0.160 | 4 | 141733394 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
39 | 0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
28 | 0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.851 | 0.160 | 19 | 11111624 | missense variant | G/A | snv | 4.3E-02 | 8.4E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
34 | 0.645 | 0.360 | 17 | 7674872 | missense variant | T/C;G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
83 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 0.010 | 1.000 | 1 | 2018 | 2018 |