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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
72 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 0.900 | 0.936 | 218 | 2005 | 2019 | |||
|
16 | 0.716 | 0.240 | 10 | 122454932 | missense variant | G/T | snv | 0.26 | 0.23 | 0.900 | 0.979 | 97 | 2006 | 2019 | |||
|
33 | 0.645 | 0.560 | 1 | 196673103 | missense variant | G/A | snv | 0.32 | 0.40 | 0.900 | 0.980 | 51 | 2005 | 2019 | |||
|
14 | 0.724 | 0.280 | 10 | 122461028 | non coding transcript exon variant | G/A | snv | 0.23 | 0.900 | 0.900 | 50 | 2006 | 2019 | ||||
|
10 | 0.763 | 0.240 | 19 | 6718376 | missense variant | G/C;T | snv | 0.15 | 0.900 | 0.852 | 27 | 2009 | 2020 | ||||
|
7 | 0.790 | 0.160 | 6 | 31946403 | missense variant | G/A;T | snv | 9.6E-02; 4.1E-06 | 0.900 | 0.947 | 19 | 2007 | 2019 | ||||
|
11 | 0.807 | 0.240 | 1 | 196727803 | intron variant | G/A | snv | 0.46 | 0.900 | 0.929 | 14 | 2007 | 2019 | ||||
|
3 | 0.882 | 0.160 | 6 | 31943161 | intron variant | G/T | snv | 0.12 | 0.100 | 1.000 | 14 | 2007 | 2018 | ||||
|
4 | 0.851 | 0.160 | 6 | 31962685 | intron variant | G/A | snv | 0.14 | 0.16 | 0.870 | 1.000 | 12 | 2010 | 2019 | |||
|
12 | 0.851 | 0.120 | 15 | 58386313 | intron variant | C/T | snv | 0.24 | 0.890 | 0.900 | 10 | 2010 | 2019 | ||||
|
15 | 0.752 | 0.200 | 2 | 55871091 | missense variant | G/A | snv | 0.090 | 0.889 | 9 | 2002 | 2019 | |||||
|
48 | 0.620 | 0.720 | 3 | 39265671 | missense variant | G/A | snv | 0.14 | 0.12 | 0.090 | 0.778 | 9 | 2004 | 2018 | |||
|
7 | 0.807 | 0.040 | 4 | 109737911 | intron variant | T/C | snv | 0.54 | 0.840 | 0.875 | 8 | 2010 | 2019 | ||||
|
11 | 0.776 | 0.240 | 1 | 196713817 | synonymous variant | G/A;C;T | snv | 0.44 | 0.080 | 1.000 | 8 | 2007 | 2018 | ||||
|
38 | 0.637 | 0.680 | 3 | 39265765 | missense variant | C/T | snv | 0.22 | 0.22 | 0.080 | 0.875 | 8 | 2004 | 2018 | |||
|
26 | 0.732 | 0.280 | 16 | 56959412 | upstream gene variant | C/A | snv | 0.31 | 0.860 | 1.000 | 8 | 2010 | 2018 | ||||
|
10 | 0.763 | 0.360 | 6 | 31936027 | missense variant | G/A;C | snv | 4.1E-06; 3.9E-02 | 0.860 | 1.000 | 8 | 2006 | 2018 | ||||
|
16 | 0.716 | 0.280 | 1 | 196747245 | missense variant | C/T | snv | 1.4E-04 | 1.9E-04 | 0.760 | 1.000 | 7 | 2015 | 2018 | |||
|
3 | 0.882 | 0.160 | 11 | 57610852 | intron variant | C/T | snv | 0.39 | 0.070 | 0.714 | 7 | 2008 | 2015 | ||||
|
9 | 0.790 | 0.320 | 6 | 31946247 | missense variant | T/A | snv | 3.9E-02 | 3.4E-02 | 0.070 | 1.000 | 7 | 2009 | 2019 | |||
|
3 | 0.925 | 0.040 | 15 | 58395681 | intron variant | T/C | snv | 0.50 | 0.860 | 1.000 | 7 | 2010 | 2019 | ||||
|
8 | 0.790 | 0.280 | 17 | 1769982 | missense variant | C/T | snv | 0.61 | 0.69 | 0.060 | 1.000 | 6 | 2005 | 2018 | |||
|
9 | 0.807 | 0.160 | 1 | 196733680 | intron variant | C/T | snv | 0.44 | 0.830 | 1.000 | 6 | 2006 | 2019 | ||||
|
6 | 0.807 | 0.040 | 4 | 109764664 | missense variant | C/T | snv | 4.2E-04 | 3.9E-04 | 0.750 | 1.000 | 6 | 2013 | 2019 | |||
|
17 | 0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 | 0.060 | 0.833 | 6 | 1999 | 2019 |