Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | 2 | 112829544 | downstream gene variant | A/G | snv | 0.83 |
|
0.020 | 1.000 | 2 | 2017 | 2020 | ||||||||
|
0.882 | 0.120 | 2 | 112829544 | downstream gene variant | A/G | snv | 0.83 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.120 | 2 | 112829544 | downstream gene variant | A/G | snv | 0.83 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 2 | 112830483 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.882 | 0.080 | 2 | 112830483 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.882 | 0.080 | 2 | 112830483 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.040 | 2 | 112830530 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-05 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 2 | 112830530 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-05 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.790 | 0.320 | 2 | 112830725 | intron variant | C/T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.320 | 2 | 112830725 | intron variant | C/T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.790 | 0.320 | 2 | 112830725 | intron variant | C/T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.320 | 2 | 112830725 | intron variant | C/T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.790 | 0.320 | 2 | 112830725 | intron variant | C/T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.790 | 0.320 | 2 | 112830725 | intron variant | C/T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.320 | 2 | 112830725 | intron variant | C/T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.790 | 0.320 | 2 | 112830725 | intron variant | C/T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.320 | 2 | 112830725 | intron variant | C/T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.790 | 0.320 | 2 | 112830725 | intron variant | C/T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
2 | 112830976 | intron variant | A/G | snv | 0.89 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | 0.120 | 2 | 112831216 | non coding transcript exon variant | C/T | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 2 | 112831216 | non coding transcript exon variant | C/T | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 |
|
0.040 | 0.750 | 4 | 2016 | 2019 | |||||||
|
0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 |
|
0.030 | 1.000 | 3 | 2012 | 2019 | |||||||
|
0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 |
|
0.030 | 1.000 | 3 | 2013 | 2018 | |||||||
|
0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 |
|
0.030 | 1.000 | 3 | 2012 | 2019 |