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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.900 | 0.980 | 101 | 2005 | 2019 | |||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.900 | 1.000 | 11 | 2008 | 2017 | ||||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.100 | 0.900 | 10 | 2002 | 2018 | ||||
|
21 | 0.689 | 0.520 | 18 | 69864406 | missense variant | T/A;C | snv | 4.0E-06; 0.52 | 0.090 | 1.000 | 9 | 2009 | 2018 | ||||
|
13 | 0.732 | 0.400 | 1 | 113852067 | missense variant | C/T | snv | 1.7E-02 | 1.6E-02 | 0.060 | 0.833 | 6 | 2011 | 2019 | |||
|
25 | 0.667 | 0.400 | 19 | 10352442 | missense variant | G/C | snv | 2.7E-02 | 2.8E-02 | 0.750 | 0.833 | 6 | 2013 | 2019 | |||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.050 | 0.800 | 5 | 2012 | 2016 | |||
|
46 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 0.040 | 1.000 | 4 | 2009 | 2019 | ||||
|
33 | 0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 | 0.040 | 1.000 | 4 | 2007 | 2017 | |||
|
22 | 0.683 | 0.480 | 8 | 11486464 | upstream gene variant | C/T | snv | 0.25 | 0.730 | 1.000 | 4 | 2011 | 2017 | ||||
|
19 | 0.695 | 0.320 | 10 | 6056986 | intron variant | C/T | snv | 0.46 | 0.810 | 0.750 | 4 | 2011 | 2019 | ||||
|
14 | 0.742 | 0.440 | 18 | 12809341 | intron variant | A/G | snv | 0.12 | 0.810 | 1.000 | 3 | 2011 | 2019 | ||||
|
44 | 0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 | 0.810 | 1.000 | 3 | 2010 | 2019 | ||||
|
14 | 0.742 | 0.480 | 16 | 10877045 | intron variant | G/A | snv | 0.53 | 0.030 | 0.667 | 3 | 2006 | 2012 | ||||
|
20 | 0.689 | 0.520 | 4 | 122588266 | regulatory region variant | G/T | snv | 0.10 | 0.720 | 1.000 | 3 | 2010 | 2013 | ||||
|
25 | 0.683 | 0.560 | 5 | 35874473 | missense variant | C/T | snv | 0.23 | 0.21 | 0.030 | 0.333 | 3 | 2014 | 2018 | |||
|
33 | 0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 | 0.020 | 1.000 | 2 | 2001 | 2015 | |||
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.020 | 1.000 | 2 | 2011 | 2011 | |||
|
7 | 0.827 | 0.240 | 17 | 42329642 | missense variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2011 | 2011 | |||||
|
14 | 0.732 | 0.520 | 16 | 31265490 | missense variant | G/A | snv | 9.7E-02 | 0.11 | 0.020 | 1.000 | 2 | 2012 | 2016 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2013 | 2014 | |||
|
17 | 0.708 | 0.440 | 3 | 48466707 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2015 | 2020 | |||||
|
7 | 0.827 | 0.200 | 4 | 122194347 | intron variant | A/G | snv | 0.11 | 0.710 | 1.000 | 2 | 2010 | 2011 | ||||
|
9 | 0.790 | 0.320 | 12 | 57574932 | intron variant | C/G | snv | 0.42 | 0.710 | 1.000 | 2 | 2011 | 2015 | ||||
|
52 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 0.020 | 1.000 | 2 | 2011 | 2016 |