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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.742 | 0.200 | 7 | 101126257 | upstream gene variant | A/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
31 | 0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
32 | 0.662 | 0.640 | 3 | 10289773 | missense variant | G/T | snv | 8.8E-02 | 7.1E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.925 | 0.080 | 19 | 10417700 | missense variant | T/A | snv | 4.5E-05 | 7.7E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
6 | 0.925 | 0.080 | 6 | 104416939 | intergenic variant | G/A | snv | 0.65 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.882 | 0.080 | 13 | 105458546 | upstream gene variant | C/A | snv | 0.63 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.080 | 13 | 105475787 | intron variant | A/C | snv | 0.32 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
6 | 0.827 | 0.160 | 2 | 107992192 | missense variant | A/G | snv | 9.3E-02 | 7.4E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
5 | 0.882 | 0.080 | 12 | 108883967 | intron variant | T/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.925 | 0.080 | 10 | 111078794 | missense variant | C/G;T | snv | 1.9E-03 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
43 | 0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
8 | 0.807 | 0.120 | 11 | 113393764 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
56 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
12 | 0.776 | 0.160 | 11 | 113414814 | intron variant | C/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
19 | 0.708 | 0.240 | 11 | 113932306 | missense variant | A/C | snv | 0.33 | 0.36 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
42 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 0.030 | 1.000 | 3 | 2012 | 2018 | |||||
|
4 | 0.882 | 0.080 | 6 | 116296236 | intron variant | C/T | snv | 0.41 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
5 | 0.882 | 0.120 | 12 | 117333706 | intron variant | C/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.944 | 18 | 2001 | 2017 | |||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.020 | 1.000 | 2 | 2011 | 2017 | |||
|
3 | 0.925 | 0.080 | 10 | 119551536 | intergenic variant | G/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2016 | 2016 |