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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.807 | 0.160 | 1 | 241881973 | missense variant | C/A;G;T | snv | 0.96 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
9 | 0.807 | 0.160 | 1 | 241879243 | missense variant | A/G | snv | 0.66 | 0.66 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
11 | 0.776 | 0.240 | 1 | 241846814 | upstream gene variant | A/G | snv | 0.23 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
8 | 0.790 | 0.200 | 1 | 241885375 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.827 | 0.160 | 2 | 216108009 | intron variant | G/T | snv | 0.37 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
13 | 0.752 | 0.240 | 1 | 241889740 | 3 prime UTR variant | A/G | snv | 0.72 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
9 | 0.776 | 0.240 | 2 | 216196997 | intron variant | A/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
16 | 0.742 | 0.240 | 1 | 241885372 | missense variant | C/T | snv | 0.21 | 0.19 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
22 | 0.689 | 0.400 | 11 | 108223106 | 5 prime UTR variant | G/A | snv | 0.49 | 0.020 | 1.000 | 2 | 2010 | 2019 | ||||
|
2 | 1.000 | 0.120 | 17 | 58277848 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
45 | 0.605 | 0.480 | 10 | 129708019 | missense variant | C/T | snv | 0.14 | 0.14 | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.050 | 1.000 | 5 | 2011 | 2017 | |||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.020 | 1.000 | 2 | 2011 | 2015 | |||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.020 | 1.000 | 2 | 2011 | 2013 | |||
|
4 | 0.882 | 0.200 | 9 | 36110066 | synonymous variant | T/A | snv | 0.32 | 0.28 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
6 | 0.851 | 0.240 | 9 | 36105267 | synonymous variant | A/C;G | snv | 4.0E-06; 0.34 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
6 | 0.827 | 0.160 | 3 | 50331654 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.807 | 0.200 | 11 | 111911973 | 5 prime UTR variant | G/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.882 | 0.120 | 9 | 36087879 | missense variant | G/A | snv | 9.2E-02 | 8.5E-02 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
68 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
93 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
20 | 0.695 | 0.240 | 10 | 133526341 | non coding transcript exon variant | C/T | snv | 3.1E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.851 | 0.160 | 11 | 111910113 | 3 prime UTR variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.851 | 0.160 | 11 | 111911560 | synonymous variant | C/G;T | snv | 1.5E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 |