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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
54 | 0.587 | 0.520 | 16 | 50712015 | missense variant | C/T | snv | 2.6E-02 | 2.9E-02 | 1.000 | 0.940 | 83 | 2001 | 2018 | |||
|
46 | 0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 | 1.000 | 0.949 | 78 | 2001 | 2019 | ||||
|
37 | 0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 | 0.900 | 0.961 | 51 | 2007 | 2020 | |||
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.900 | 0.944 | 36 | 2006 | 2020 | |||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.800 | 0.895 | 19 | 2004 | 2017 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.100 | 0.786 | 14 | 2005 | 2017 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.100 | 0.929 | 14 | 2005 | 2018 | |||
|
6 | 0.827 | 0.040 | 16 | 50710812 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.100 | 1.000 | 13 | 2007 | 2019 | ||||
|
10 | 0.776 | 0.480 | 5 | 132340627 | missense variant | C/T | snv | 0.29 | 0.28 | 0.800 | 0.917 | 12 | 2006 | 2017 | |||
|
11 | 0.763 | 0.480 | 18 | 12779948 | upstream gene variant | G/T | snv | 0.83 | 0.880 | 1.000 | 12 | 2007 | 2016 | ||||
|
9 | 0.790 | 0.200 | 16 | 50710807 | missense variant | G/A | snv | 1.2E-05 | 2.1E-05 | 0.100 | 0.917 | 12 | 2004 | 2017 | |||
|
19 | 0.689 | 0.600 | 1 | 67215986 | intron variant | T/G | snv | 0.37 | 0.880 | 1.000 | 11 | 2007 | 2019 | ||||
|
15 | 0.763 | 0.200 | 16 | 50710713 | missense variant | C/A;T | snv | 4.0E-06; 0.19 | 0.790 | 1.000 | 10 | 2002 | 2014 | ||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.860 | 0.800 | 10 | 2005 | 2016 | |||
|
14 | 0.742 | 0.440 | 18 | 12809341 | intron variant | A/G | snv | 0.12 | 0.850 | 1.000 | 9 | 2008 | 2016 | ||||
|
5 | 0.882 | 0.040 | 16 | 50722970 | intron variant | A/G | snv | 0.17 | 0.830 | 1.000 | 9 | 2007 | 2019 | ||||
|
9 | 0.776 | 0.360 | 1 | 67204530 | intron variant | G/A | snv | 0.30 | 0.860 | 1.000 | 8 | 2006 | 2019 | ||||
|
10 | 0.763 | 0.280 | 9 | 4981602 | upstream gene variant | C/A;T | snv | 0.850 | 1.000 | 8 | 2008 | 2016 | |||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.080 | 0.875 | 8 | 2005 | 2017 | ||||
|
10 | 0.790 | 0.320 | 1 | 206766559 | upstream gene variant | G/A | snv | 0.11 | 0.850 | 0.875 | 8 | 2008 | 2017 | ||||
|
16 | 0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 | 0.830 | 1.000 | 8 | 2008 | 2017 | |||
|
8 | 0.807 | 0.120 | 5 | 150860025 | intron variant | G/A | snv | 0.25 | 0.080 | 0.875 | 8 | 2008 | 2020 | ||||
|
10 | 0.763 | 0.200 | 9 | 114796423 | intron variant | C/T | snv | 0.73 | 0.760 | 1.000 | 8 | 2005 | 2018 | ||||
|
22 | 0.689 | 0.560 | 17 | 42362183 | intron variant | A/G | snv | 0.48 | 0.870 | 1.000 | 8 | 2008 | 2016 | ||||
|
8 | 0.790 | 0.200 | 5 | 150848436 | synonymous variant | C/T | snv | 0.17 | 0.21 | 0.070 | 0.857 | 7 | 2011 | 2014 |