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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.807 | 0.240 | 6 | 32445274 | downstream gene variant | A/G | snv | 0.90 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.807 | 0.120 | 1 | 24192153 | upstream gene variant | A/G | snv | 0.87 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.160 | 1 | 247459055 | upstream gene variant | A/G | snv | 0.81 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.790 | 0.160 | 5 | 132660753 | 3 prime UTR variant | A/G | snv | 0.81 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
52 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.120 | 8 | 6537300 | intron variant | T/C | snv | 0.71 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.925 | 0.120 | 8 | 42695355 | upstream gene variant | C/T | snv | 0.64 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.160 | 5 | 96766240 | intron variant | A/G | snv | 0.61 | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||
|
4 | 0.851 | 0.160 | 1 | 24193430 | intergenic variant | G/A | snv | 0.61 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 19 | 10707416 | intron variant | G/A | snv | 0.57 | 0.59 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
5 | 0.827 | 0.240 | 6 | 137878280 | intron variant | G/T | snv | 0.58 | 0.710 | 1.000 | 2 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 11 | 104998504 | intron variant | G/A | snv | 0.58 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.827 | 0.120 | 2 | 62324337 | intergenic variant | A/G | snv | 0.57 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
26 | 0.672 | 0.360 | 6 | 149400554 | missense variant | G/A | snv | 0.55 | 0.57 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 0.925 | 0.040 | 3 | 16954543 | intron variant | G/A | snv | 0.56 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 10 | 73839369 | intron variant | A/G | snv | 0.55 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 10 | 73894114 | intergenic variant | C/T | snv | 0.55 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.120 | 5 | 96900192 | splice region variant | A/G | snv | 0.55 | 0.54 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 1 | 247435930 | intron variant | G/A | snv | 0.59 | 0.51 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
40 | 0.627 | 0.680 | 4 | 153703504 | synonymous variant | T/C | snv | 0.40 | 0.48 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.040 | 14 | 35383280 | downstream gene variant | T/C | snv | 0.47 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 20 | 46005911 | upstream gene variant | T/C | snv | 0.45 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
19 | 0.716 | 0.400 | 4 | 153685974 | intron variant | T/A | snv | 0.45 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.120 | 17 | 5649930 | intergenic variant | G/C | snv | 0.44 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 4 | 102593288 | non coding transcript exon variant | C/G | snv | 0.42 | 0.010 | 1.000 | 1 | 2016 | 2016 |