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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
26 | 0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.050 | 1.000 | 5 | 2008 | 2015 | |||||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.030 | 1.000 | 3 | 2012 | 2019 | ||||
|
81 | 0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 | 0.030 | 1.000 | 3 | 2008 | 2012 | |||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.020 | < 0.001 | 2 | 2013 | 2019 | |||||
|
10 | 0.776 | 0.360 | 12 | 47906043 | non coding transcript exon variant | T/C | snv | 0.31 | 0.020 | 1.000 | 2 | 2006 | 2017 | ||||
|
56 | 0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 | 0.020 | 0.500 | 2 | 2012 | 2019 | |||
|
27 | 0.672 | 0.480 | 12 | 47908762 | intron variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.807 | 0.360 | 12 | 47844859 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.120 | 12 | 47863543 | intron variant | C/T | snv | 0.34 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.200 | 12 | 47886882 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
6 | 0.807 | 0.360 | 12 | 47845892 | intron variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.120 | 12 | 47842840 | 3 prime UTR variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 |