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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
29 | 0.653 | 0.440 | 2 | 43839108 | missense variant | G/A;C | snv | 6.4E-06; 6.7E-02 | 0.800 | 1.000 | 17 | 2007 | 2018 | ||||
|
3 | 0.882 | 0.080 | 2 | 43844604 | missense variant | A/G | snv | 0.43 | 0.35 | 0.030 | 1.000 | 3 | 2007 | 2014 | |||
|
11 | 0.790 | 0.280 | 2 | 43872294 | missense variant | C/A;T | snv | 0.21; 1.2E-05 | 0.020 | 1.000 | 2 | 2007 | 2014 | ||||
|
8 | 0.882 | 0.080 | 2 | 43847292 | non coding transcript exon variant | C/A;T | snv | 0.710 | 1.000 | 2 | 2007 | 2016 | |||||
|
3 | 0.882 | 0.080 | 2 | 43846517 | non coding transcript exon variant | T/C | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
11 | 0.851 | 0.120 | 2 | 43845437 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
6 | 0.925 | 0.040 | 2 | 43846861 | non coding transcript exon variant | G/A | snv | 6.9E-02 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 0.882 | 0.120 | 2 | 43877786 | missense variant | T/A;C;G | snv | 0.84; 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.040 | 2 | 43873860 | missense variant | A/C;G | snv | 8.0E-06; 3.8E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.040 | 2 | 43877848 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.040 | 2 | 43877845 | missense variant | G/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.925 | 0.080 | 2 | 43837951 | missense variant | G/A;T | snv | 6.7E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 2 | 43852775 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 |