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 | 0.040 | 5 | 56566769 | intron variant | A/G | snv | 0.37 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 7 | 51938719 | intergenic variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 1 | 202180311 | non coding transcript exon variant | A/G | snv | 0.65 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 5 | 142392033 | intron variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 5 | 168459692 | intron variant | G/C | snv | 0.31 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 9 | 124005148 | intron variant | T/C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 10 | 24924199 | intron variant | G/A | snv | 0.33 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 4 | 165951384 | intron variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 11 | 88216364 | intergenic variant | T/C | snv | 0.14 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 4 | 33652135 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 4 | 165944433 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 9 | 98221544 | intron variant | C/G;T | snv | 0.20 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 3 | 114127695 | 3 prime UTR variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.120 | 7 | 31095890 | intron variant | C/G | snv | 0.47 | 0.050 | 0.800 | 5 | 2013 | 2017 | ||||
|
2 | 1.000 | 0.040 | 17 | 59110368 | 3 prime UTR variant | G/A;C;T | snv | 0.020 | 0.500 | 2 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.040 | 5 | 76968168 | intron variant | A/T | snv | 0.50 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.040 | 17 | 7001742 | synonymous variant | T/C;G | snv | 0.59 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 3 | 42264802 | 5 prime UTR variant | A/G | snv | 0.82 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 1 | 25908492 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.040 | 15 | 60834660 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.120 | 1 | 183227583 | missense variant | G/A;C | snv | 1.7E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.040 | 7 | 12382283 | intron variant | T/C | snv | 5.3E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 8 | 124855801 | intron variant | A/G | snv | 0.17 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 11 | 83565125 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.040 | 15 | 60838440 | intron variant | C/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2013 | 2013 |