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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
22 | 0.672 | 0.520 | 11 | 126292948 | missense variant | C/T | snv | 0.12 | 0.11 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
14 | 0.732 | 0.360 | 5 | 96788627 | missense variant | T/A;C | snv | 0.62 | 0.030 | 1.000 | 3 | 2013 | 2015 | ||||
|
4 | 0.882 | 0.240 | 5 | 96786506 | missense variant | C/T | snv | 0.15 | 0.16 | 0.020 | 1.000 | 2 | 2013 | 2015 | |||
|
3 | 0.882 | 0.240 | 5 | 96783162 | missense variant | C/G;T | snv | 2.8E-05; 0.15 | 0.020 | 1.000 | 2 | 2013 | 2015 | ||||
|
49 | 0.587 | 0.520 | 16 | 50712015 | missense variant | C/T | snv | 2.6E-02 | 2.9E-02 | 0.020 | 1.000 | 2 | 2002 | 2005 | |||
|
43 | 0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 | 0.020 | 1.000 | 2 | 2002 | 2005 | ||||
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
106 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.040 | 2 | 112782600 | intron variant | C/T | snv | 0.32 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
15 | 0.763 | 0.200 | 16 | 50710713 | missense variant | C/A;T | snv | 4.0E-06; 0.19 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
105 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.827 | 0.240 | 5 | 96783148 | missense variant | G/C | snv | 0.69 | 0.71 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
9 | 0.763 | 0.280 | 2 | 112774506 | 3 prime UTR variant | A/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 9 | 114930064 | intron variant | G/A;T | snv | 0.13; 5.3E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.040 | 2 | 113074368 | missense variant | T/A;C | snv | 4.0E-06; 0.13 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.080 | 11 | 68348021 | missense variant | A/G | snv | 1.9E-02 | 8.2E-03 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
31 | 0.658 | 0.440 | 3 | 52226766 | intron variant | A/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
54 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
8 | 0.752 | 0.320 | 6 | 20728500 | intron variant | T/C | snv | 0.78 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
86 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
7 | 0.807 | 0.200 | 14 | 55008684 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.040 | 6 | 36100526 | intron variant | G/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2017 | 2017 |