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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.827 | 0.200 | 12 | 47846743 | missense variant | C/A | snv | 0.020 | 1.000 | 2 | 2002 | 2018 | |||||
|
32 | 0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.827 | 0.200 | X | 50085987 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
9 | 0.776 | 0.240 | 11 | 14893764 | upstream gene variant | A/G | snv | 0.63 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.320 | 4 | 71770555 | intron variant | C/T | snv | 0.72 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
98 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
9 | 0.790 | 0.200 | 12 | 47863983 | intron variant | T/C | snv | 0.39 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
36 | 0.645 | 0.480 | 4 | 71742666 | intron variant | T/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 4 | 71783134 | intron variant | A/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
51 | 0.597 | 0.720 | 4 | 71752606 | missense variant | G/A;T | snv | 1.6E-05; 0.25 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 0.925 | 0.200 | 11 | 14885847 | missense variant | A/G | snv | 2.4E-04 | 1.0E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
81 | 0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 0.925 | 0.200 | X | 50070025 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
56 | 0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 | 0.010 | 1.000 | 1 | 2014 | 2014 |