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 | |||
|
18 | 0.716 | 0.400 | 16 | 50729868 | frameshift variant | C/-;CC | delins | 1.5E-02 | 0.890 | 0.923 | 13 | 2005 | 2019 | ||||
|
11 | 0.763 | 0.480 | 18 | 12779948 | upstream gene variant | G/T | snv | 0.83 | 0.880 | 1.000 | 12 | 2007 | 2016 | ||||
|
19 | 0.689 | 0.600 | 1 | 67215986 | intron variant | T/G | snv | 0.37 | 0.880 | 1.000 | 11 | 2007 | 2019 | ||||
|
22 | 0.689 | 0.560 | 17 | 42362183 | intron variant | A/G | snv | 0.48 | 0.870 | 1.000 | 8 | 2008 | 2016 | ||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.860 | 0.800 | 10 | 2005 | 2016 | |||
|
9 | 0.776 | 0.360 | 1 | 67204530 | intron variant | G/A | snv | 0.30 | 0.860 | 1.000 | 8 | 2006 | 2019 | ||||
|
14 | 0.742 | 0.440 | 18 | 12809341 | intron variant | A/G | snv | 0.12 | 0.850 | 1.000 | 9 | 2008 | 2016 | ||||
|
10 | 0.763 | 0.280 | 9 | 4981602 | upstream gene variant | C/A;T | snv | 0.850 | 1.000 | 8 | 2008 | 2016 | |||||
|
10 | 0.790 | 0.320 | 1 | 206766559 | upstream gene variant | G/A | snv | 0.11 | 0.850 | 0.875 | 8 | 2008 | 2017 | ||||
|
40 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 0.850 | 1.000 | 7 | 2006 | 2020 | ||||
|
13 | 0.752 | 0.240 | 5 | 150843825 | upstream gene variant | T/C | snv | 0.21 | 0.850 | 1.000 | 7 | 2007 | 2015 | ||||
|
14 | 0.716 | 0.440 | 1 | 67228519 | intron variant | A/G;T | snv | 0.850 | 1.000 | 7 | 2006 | 2013 | |||||
|
12 | 0.742 | 0.320 | 9 | 114790605 | synonymous variant | T/C | snv | 0.71 | 0.75 | 0.850 | 1.000 | 7 | 2005 | 2018 | |||
|
3 | 0.882 | 0.080 | 1 | 67182913 | missense variant | G/A | snv | 7.3E-03 | 4.5E-03 | 0.850 | 1.000 | 7 | 2011 | 2019 | |||
|
13 | 0.732 | 0.320 | 9 | 114806766 | upstream gene variant | T/C | snv | 0.74 | 0.840 | 1.000 | 6 | 2005 | 2018 | ||||
|
2 | 0.925 | 0.040 | 5 | 150860514 | intron variant | C/T | snv | 0.13 | 0.840 | 1.000 | 5 | 2007 | 2015 | ||||
|
5 | 0.882 | 0.040 | 16 | 50722970 | intron variant | A/G | snv | 0.17 | 0.830 | 1.000 | 9 | 2007 | 2019 | ||||
|
16 | 0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 | 0.830 | 1.000 | 8 | 2008 | 2017 | |||
|
7 | 0.807 | 0.200 | 16 | 50729868 | frameshift variant | C/-;CC | delins | 0.830 | 1.000 | 8 | 2007 | 2017 | |||||
|
12 | 0.752 | 0.320 | 9 | 114806486 | upstream gene variant | A/G | snv | 0.74 | 0.830 | 1.000 | 7 | 2005 | 2016 | ||||
|
3 | 0.882 | 0.080 | 10 | 99528007 | non coding transcript exon variant | G/A | snv | 0.52 | 0.830 | 1.000 | 5 | 2007 | 2014 |