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 | 6 | 30064718 | 3 prime UTR variant | A/G | snv | 0.15 | 0.17 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
16 | 0.752 | 0.320 | 4 | 69098620 | missense variant | T/C | snv | 0.56 | 0.57 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
8 | 0.827 | 0.240 | 4 | 69112695 | missense variant | T/C | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 11 | 5680051 | missense variant | G/A | snv | 0.13 | 0.10 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
42 | 0.630 | 0.440 | 19 | 19268740 | missense variant | C/T | snv | 6.5E-02 | 5.8E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.020 | 1.000 | 2 | 2010 | 2019 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.020 | 1.000 | 2 | 2010 | 2019 | |||
|
22 | 0.672 | 0.520 | 11 | 126292948 | missense variant | C/T | snv | 0.12 | 0.11 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
45 | 0.633 | 0.480 | 12 | 21178615 | missense variant | T/C | snv | 0.13 | 0.12 | 0.020 | 1.000 | 2 | 2010 | 2017 | |||
|
4 | 0.851 | 0.120 | 12 | 21176879 | missense variant | C/A;T | snv | 0.11; 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
31 | 0.653 | 0.600 | 2 | 218395009 | missense variant | G/A;C | snv | 4.9E-02; 4.1E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
1 | 1.000 | 2 | 169633213 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
6 | 0.827 | 0.080 | 6 | 154039561 | missense variant | C/A;G;T | snv | 4.1E-06; 1.7E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
7 | 0.807 | 0.200 | 3 | 46459778 | missense variant | C/T | snv | 0.34 | 0.53 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
11 | 0.763 | 0.240 | 3 | 46459723 | missense variant | T/C | snv | 0.41 | 0.51 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 1 | 165207796 | intron variant | G/A | snv | 0.79 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.851 | 0.160 | 19 | 11131368 | synonymous variant | G/A | snv | 0.24 | 0.22 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
10 | 0.776 | 0.160 | 4 | 141733394 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
84 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 0.060 | 1.000 | 6 | 2010 | 2018 | ||||
|
3 | 0.925 | 0.080 | 19 | 39244283 | intron variant | A/G | snv | 0.30 | 0.010 | 1.000 | 1 | 2013 | 2013 |