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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
48 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 0.020 | 0.500 | 2 | 2008 | 2015 | |||
|
6 | 0.827 | 0.200 | 1 | 65636574 | synonymous variant | G/A | snv | 0.46 | 0.43 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.160 | 1 | 65601426 | synonymous variant | T/C | snv | 0.22 | 0.24 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.882 | 0.120 | 1 | 209626885 | missense variant | C/T | snv | 0.13 | 0.13 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.080 | 2 | 25161455 | missense variant | A/G | snv | 1.8E-04 | 1.6E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
11 | 0.851 | 0.080 | 2 | 233764663 | intron variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.752 | 0.320 | 2 | 118078449 | regulatory region variant | C/G | snv | 0.70 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.851 | 0.120 | 3 | 196707811 | stop gained | G/A | snv | 2.1E-05 | 0.020 | 0.500 | 2 | 2017 | 2018 | ||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
41 | 0.637 | 0.440 | 3 | 12434058 | synonymous variant | C/T | snv | 0.13 | 0.11 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.080 | 3 | 85912502 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.080 | 3 | 12381349 | missense variant | C/A | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
56 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 0.020 | 1.000 | 2 | 2016 | 2018 | |||||
|
4 | 0.882 | 0.160 | 4 | 10274843 | intergenic variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
36 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
6 | 0.807 | 0.200 | 4 | 37902468 | missense variant | C/A;T | snv | 4.0E-06; 9.7E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
98 | 0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
7 | 0.827 | 0.240 | 4 | 9992591 | intron variant | C/T | snv | 0.82 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.080 | 5 | 96423317 | missense variant | T/C | snv | 4.5E-05 | 7.0E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 6 | 131807424 | upstream gene variant | C/G;T | snv | 0.18 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.080 | 6 | 100390522 | missense variant | T/C | snv | 8.0E-06; 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.882 | 0.120 | 6 | 131819872 | non coding transcript exon variant | C/T | snv | 0.64 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.080 | 7 | 106269615 | intron variant | A/T | snv | 1.1E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
65 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 0.020 | 1.000 | 2 | 1997 | 2007 |