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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.100 | 0.903 | 31 | 2001 | 2018 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.833 | 12 | 2006 | 2019 | |||
|
39 | 0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 | 0.100 | 1.000 | 10 | 2001 | 2018 | |||
|
48 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 0.090 | 0.889 | 9 | 2008 | 2020 | |||
|
16 | 0.716 | 0.440 | 1 | 65610269 | missense variant | G/C;T | snv | 0.16; 4.0E-06 | 0.080 | 1.000 | 8 | 2001 | 2019 | ||||
|
12 | 0.763 | 0.280 | 1 | 65621409 | missense variant | A/G | snv | 7.0E-06 | 0.060 | 1.000 | 6 | 2009 | 2018 | ||||
|
57 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 0.040 | 0.750 | 4 | 2004 | 2007 | ||||
|
4 | 0.882 | 0.240 | 1 | 30874473 | missense variant | G/A;C | snv | 9.3E-02 | 0.040 | 1.000 | 4 | 2006 | 2018 | ||||
|
7 | 1.000 | 0.080 | 1 | 177944384 | intron variant | T/C | snv | 0.22 | 0.720 | 0.667 | 3 | 2009 | 2013 | ||||
|
3 | 0.882 | 0.200 | 1 | 32861080 | downstream gene variant | G/T | snv | 0.29 | 0.030 | 0.667 | 3 | 2014 | 2019 | ||||
|
11 | 1.000 | 0.080 | 1 | 177920345 | upstream gene variant | A/G | snv | 0.21 | 0.030 | 1.000 | 3 | 2012 | 2016 | ||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.030 | 1.000 | 3 | 2002 | 2012 | |||
|
5 | 0.851 | 0.200 | 1 | 160882036 | missense variant | A/G;T | snv | 0.66 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
|
8 | 0.882 | 0.160 | 1 | 72299433 | intron variant | G/A;C | snv | 0.810 | 1.000 | 2 | 2013 | 2014 | |||||
|
3 | 1.000 | 0.080 | 1 | 219470882 | intergenic variant | A/G | snv | 0.77 | 0.710 | 1.000 | 2 | 2009 | 2011 | ||||
|
6 | 1.000 | 0.080 | 1 | 72285502 | intron variant | T/C | snv | 0.62 | 0.800 | 1.000 | 2 | 2013 | 2013 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 1.000 | 2 | 2007 | 2016 | |||||
|
8 | 0.807 | 0.160 | 1 | 161223893 | upstream gene variant | G/A | snv | 0.68 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
|
10 | 0.752 | 0.440 | 1 | 9263851 | missense variant | G/A;C | snv | 0.28; 1.2E-04 | 0.020 | 1.000 | 2 | 2012 | 2019 | ||||
|
15 | 0.732 | 0.320 | 1 | 156138697 | synonymous variant | C/T | snv | 8.0E-06 | 0.020 | 0.500 | 2 | 2004 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 209693771 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 1.000 | 0.080 | 1 | 74512186 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 1 | 212620271 | 3 prime UTR variant | T/C | snv | 0.76 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
72 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.080 | 1 | 96571527 | intergenic variant | T/C | snv | 0.28 | 0.010 | 1.000 | 1 | 2015 | 2015 |