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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.020 | 1.000 | 2 | 2007 | 2010 | ||||
|
2 | 0.925 | 0.040 | 11 | 14888727 | intron variant | T/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.807 | 0.240 | 11 | 14900334 | upstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
20 | 0.716 | 0.320 | 6 | 108659993 | intron variant | T/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
21 | 0.689 | 0.520 | 12 | 121177300 | missense variant | G/A;T | snv | 0.35; 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 17 | 27783810 | intron variant | T/A | snv | 9.9E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.827 | 0.120 | 4 | 153688371 | non coding transcript exon variant | T/C | snv | 0.79 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
48 | 0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
46 | 0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
11 | 0.776 | 0.240 | 11 | 14893764 | upstream gene variant | A/G | snv | 0.63 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
11 | 0.763 | 0.360 | 17 | 35880776 | 5 prime UTR variant | C/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
105 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 17 | 35880401 | 5 prime UTR variant | G/C | snv | 2.0E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
23 | 0.677 | 0.480 | 11 | 117993348 | missense variant | A/G | snv | 0.13 | 0.11 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.040 | 17 | 78355453 | upstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.040 | 2 | 218387485 | intron variant | C/T | snv | 8.0E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.882 | 0.160 | 2 | 218385280 | non coding transcript exon variant | G/A;C;T | snv | 0.23; 1.4E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
11 | 0.752 | 0.320 | X | 12906707 | start lost | A/G | snv | 0.31 | 0.30 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
53 | 0.597 | 0.720 | 4 | 71752606 | missense variant | G/A;T | snv | 1.6E-05; 0.25 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 5 | 159263943 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
64 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 3 | 141681811 | intron variant | G/A | snv | 4.4E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.851 | 0.120 | 17 | 78361310 | intron variant | C/A | snv | 0.17 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 17 | 27807685 | intron variant | C/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2009 | 2009 |