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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 13 | 83878728 | 3 prime UTR variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 13 | 83880244 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
23 | 0.672 | 0.560 | 2 | 112779646 | missense variant | C/A | snv | 0.27 | 0.26 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
10 | 0.763 | 0.400 | 2 | 113132727 | missense variant | T/A;C | snv | 4.0E-06; 0.31 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
5 | 0.851 | 0.240 | X | 114584047 | upstream gene variant | C/G;T | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||
|
7 | 0.807 | 0.200 | X | 114584109 | 5 prime UTR variant | C/A;G | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
23 | 0.732 | 0.160 | 6 | 77462543 | synonymous variant | C/G | snv | 0.31 | 0.27 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.020 | 0.500 | 2 | 2010 | 2016 | |||
|
8 | 0.776 | 0.160 | 6 | 38398097 | intron variant | T/C | snv | 0.38 | 0.030 | 1.000 | 3 | 2009 | 2014 | ||||
|
1 | 1.000 | 0.120 | 2 | 58728818 | intron variant | A/G | snv | 0.47 | 0.710 | 1.000 | 2 | 2019 | 2019 | ||||
|
7 | 0.807 | 0.320 | 2 | 61048535 | missense variant | T/C | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 1999 | 2005 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.020 | 1.000 | 2 | 2006 | 2015 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2006 | 2015 | ||||
|
1 | 1.000 | 0.120 | 9 | 114228791 | intron variant | G/A | snv | 0.63 | 0.810 | 1.000 | 2 | 2013 | 2015 | ||||
|
3 | 0.882 | 0.120 | 6 | 38398065 | intron variant | T/C | snv | 0.30 | 0.020 | 1.000 | 2 | 2012 | 2014 | ||||
|
6 | 0.827 | 0.160 | 2 | 107992192 | missense variant | A/G | snv | 9.3E-02 | 7.4E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
42 | 0.630 | 0.600 | 6 | 88143916 | synonymous variant | C/T | snv | 0.21 | 0.20 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.120 | 12 | 16599165 | non coding transcript exon variant | A/T | snv | 0.46 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 13 | 76978136 | downstream gene variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 1 | 34876494 | intron variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 11 | 10976402 | regulatory region variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 8 | 112569669 | intron variant | G/A | snv | 1.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 1 | 34881321 | intron variant | T/C | snv | 9.7E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 19 | 51815127 | intron variant | G/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2019 | 2019 |