| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.070 | 1.000 | 7 | 2012 | 2018 | |||||
|
48 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 0.060 | 1.000 | 6 | 2010 | 2018 | ||||
|
6 | 0.807 | 0.320 | 3 | 186856286 | 3 prime UTR variant | C/T | snv | 9.6E-02 | 0.020 | 1.000 | 2 | 2016 | 2018 | ||||
|
37 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2011 | 2012 | |||||
|
5 | 0.851 | 0.280 | 3 | 186850391 | intron variant | G/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.851 | 0.200 | 3 | 186852664 | non coding transcript exon variant | G/A | snv | 8.8E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
19 | 0.701 | 0.440 | 3 | 186842993 | intron variant | G/A | snv | 0.38 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
11 | 0.763 | 0.160 | 3 | 186854460 | missense variant | T/C | snv | 3.1E-04 | 7.0E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
10 | 0.763 | 0.480 | 3 | 186856375 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
10 | 0.776 | 0.320 | 3 | 186853770 | splice region variant | A/G | snv | 0.55 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.160 | 3 | 186850996 | intron variant | A/T | snv | 0.17 | 0.010 | 1.000 | 1 | 2017 | 2017 |