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 | 0.080 | 20 | 49394471 | intron variant | G/A | snv | 0.44 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 6 | 131863968 | intron variant | A/C | snv | 9.8E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 13 | 42577050 | intron variant | T/C | snv | 4.0E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.925 | 0.080 | 14 | 23424938 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
8 | 0.925 | 0.080 | 1 | 155910695 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
70 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.200 | X | 101403828 | missense variant | G/A | snv | 2.2E-04 | 4.0E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
36 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
8 | 0.807 | 0.240 | 1 | 156138719 | missense variant | C/A;T | snv | 1.2E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
30 | 0.653 | 0.400 | 14 | 61740857 | missense variant | G/A | snv | 8.9E-03 | 7.0E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
23 | 0.695 | 0.400 | 5 | 148827322 | missense variant | C/T | snv | 9.1E-03 | 9.1E-03 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
55 | 0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
18 | 0.724 | 0.280 | 12 | 10160849 | missense variant | C/G | snv | 0.11 | 0.13 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
35 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 0.030 | 1.000 | 3 | 1996 | 2007 | |||
|
1 | 1.000 | 0.080 | 5 | 79737483 | missense variant | A/C;G | snv | 0.14; 2.8E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
17 | 0.724 | 0.320 | 10 | 114044277 | missense variant | A/G | snv | 0.15 | 0.17 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
38 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
28 | 0.667 | 0.440 | 4 | 23814039 | missense variant | C/T | snv | 0.31 | 0.26 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.030 | 1.000 | 3 | 2002 | 2005 | |||
|
8 | 0.851 | 0.160 | 10 | 88583080 | missense variant | C/G;T | snv | 0.46 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
19 | 0.716 | 0.480 | 8 | 118951813 | missense variant | G/C | snv | 0.52 | 0.60 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
14 | 0.742 | 0.480 | 17 | 63488670 | synonymous variant | G/A | snv | 0.53 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.060 | 1.000 | 6 | 1999 | 2007 |