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 | X | 116173577 | 3 prime UTR variant | A/G | snv | 0.020 | 0.500 | 2 | 2006 | 2014 | |||||
|
28 | 0.667 | 0.440 | 4 | 23814039 | missense variant | C/T | snv | 0.31 | 0.26 | 0.020 | 0.500 | 2 | 2004 | 2014 | |||
|
35 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 0.090 | 0.667 | 9 | 1994 | 2015 | |||
|
10 | 0.807 | 0.240 | 16 | 56899607 | missense variant | G/A | snv | 0.11 | 8.4E-02 | 0.030 | 0.667 | 3 | 2008 | 2012 | |||
|
3 | 1.000 | 0.040 | 1 | 16052230 | missense variant | A/C;T | snv | 8.0E-06; 9.6E-02 | 0.030 | 0.667 | 3 | 2004 | 2011 | ||||
|
17 | 0.724 | 0.320 | 10 | 114044277 | missense variant | A/G | snv | 0.15 | 0.17 | 0.030 | 0.667 | 3 | 2009 | 2018 | |||
|
54 | 0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 | 0.040 | 0.750 | 4 | 2013 | 2017 | ||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.100 | 0.795 | 39 | 1993 | 2014 | |||
|
34 | 0.683 | 0.440 | 10 | 114045297 | missense variant | G/C | snv | 0.74 | 0.69 | 0.060 | 0.833 | 6 | 2008 | 2018 | |||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.100 | 0.846 | 13 | 1994 | 2014 | ||||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.070 | 0.857 | 7 | 2007 | 2017 | |||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.100 | 0.864 | 22 | 1999 | 2017 | |||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.100 | 0.895 | 19 | 1998 | 2017 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.909 | 11 | 2004 | 2018 | |||
|
27 | 0.683 | 0.400 | 4 | 2904980 | missense variant | G/A;T | snv | 1.2E-05; 0.20 | 0.100 | 0.947 | 19 | 1997 | 2017 | ||||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.050 | 1.000 | 5 | 2002 | 2017 | |||
|
7 | 0.827 | 0.160 | 17 | 63489038 | synonymous variant | C/T | snv | 4.0E-06 | 0.040 | 1.000 | 4 | 1999 | 2007 | ||||
|
8 | 0.827 | 0.120 | X | 15599938 | intron variant | A/G | snv | 0.19 | 0.040 | 1.000 | 4 | 2014 | 2019 | ||||
|
4 | 0.882 | 0.160 | 4 | 3004316 | missense variant | C/A;G;T | snv | 0.36 | 0.030 | 1.000 | 3 | 2006 | 2016 | ||||
|
14 | 0.742 | 0.200 | 8 | 142918184 | upstream gene variant | A/G;T | snv | 0.38 | 0.030 | 1.000 | 3 | 2014 | 2020 | ||||
|
4 | 0.882 | 0.120 | 4 | 3037423 | missense variant | T/C;G | snv | 0.62 | 0.030 | 1.000 | 3 | 2006 | 2016 | ||||
|
7 | 0.851 | 0.160 | 17 | 81809839 | missense variant | G/A | snv | 7.4E-03 | 6.3E-03 | 0.030 | 1.000 | 3 | 1998 | 1999 | |||
|
3 | 0.925 | 0.080 | X | 15579386 | intron variant | C/T | snv | 3.9E-02 | 0.030 | 1.000 | 3 | 2018 | 2019 | ||||
|
65 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 0.030 | 1.000 | 3 | 1999 | 2018 | |||
|
38 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 0.030 | 1.000 | 3 | 2014 | 2018 |