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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.160 | 2 | 25247708 | frameshift variant | TTTCC/- | del | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 7 | 128935744 | upstream gene variant | TTAGCTATTGCTCC/-;TTAGCTATTGCTCCTTAGCTATTGCTCC | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
11 | 0.752 | 0.360 | 5 | 159333192 | intron variant | TTAGAG/GC | delins | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.900 | 0.967 | 30 | 2007 | 2017 | ||||
|
26 | 0.662 | 0.520 | 7 | 128938247 | splice donor variant | T/G | snv | 0.52 | 0.100 | 0.889 | 18 | 2006 | 2019 | ||||
|
8 | 0.807 | 0.360 | 7 | 50266267 | upstream gene variant | T/G | snv | 0.26 | 0.830 | 1.000 | 6 | 2009 | 2017 | ||||
|
33 | 0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 | 0.040 | 1.000 | 4 | 2000 | 2009 | |||
|
4 | 0.851 | 0.240 | 1 | 173257056 | intergenic variant | T/G | snv | 0.29 | 0.810 | 1.000 | 4 | 2013 | 2016 | ||||
|
46 | 0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 | 0.030 | 0.667 | 3 | 2012 | 2015 | ||||
|
7 | 0.827 | 0.200 | 6 | 32443869 | missense variant | T/G | snv | 0.64 | 0.61 | 0.700 | 1.000 | 2 | 2008 | 2014 | |||
|
7 | 0.790 | 0.400 | 6 | 32293475 | missense variant | T/G | snv | 6.0E-02 | 6.4E-02 | 0.700 | 1.000 | 2 | 2008 | 2014 | |||
|
1 | 1.000 | 0.080 | 16 | 31287618 | intron variant | T/G | snv | 0.40 | 0.710 | 1.000 | 2 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 6 | 137811379 | intergenic variant | T/G | snv | 2.4E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 10 | 35196021 | 5 prime UTR variant | T/G | snv | 0.34 | 0.34 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
27 | 0.653 | 0.600 | 15 | 81305928 | missense variant | T/G | snv | 9.6E-02 | 0.12 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.080 | 1 | 182822176 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
4 | 0.851 | 0.160 | 1 | 22637618 | start lost | T/G | snv | 7.0E-06 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 6 | 16630667 | intron variant | T/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
93 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.080 | X | 124366141 | intron variant | T/G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.160 | 11 | 619789 | missense variant | T/G | snv | 0.63 | 0.59 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
48 | 0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.827 | 0.320 | 6 | 32437101 | upstream gene variant | T/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
14 | 0.716 | 0.440 | 6 | 31652743 | intron variant | T/G | snv | 7.1E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 |