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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
48 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 0.100 | 0.833 | 12 | 2004 | 2019 | ||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.060 | 1.000 | 6 | 2009 | 2019 | |||||
|
37 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 0.050 | 1.000 | 5 | 2013 | 2020 | |||||
|
11 | 0.752 | 0.320 | 3 | 186841671 | upstream gene variant | G/A | snv | 5.3E-02 | 0.030 | 0.667 | 3 | 2010 | 2014 | ||||
|
19 | 0.701 | 0.440 | 3 | 186842993 | intron variant | G/A | snv | 0.38 | 0.020 | 1.000 | 2 | 2017 | 2018 | ||||
|
10 | 0.776 | 0.320 | 3 | 186853770 | splice region variant | A/G | snv | 0.55 | 0.020 | 0.500 | 2 | 2009 | 2014 | ||||
|
16 | 0.732 | 0.400 | 3 | 186849088 | intron variant | G/A | snv | 0.81 | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||
|
5 | 0.851 | 0.280 | 3 | 186850391 | intron variant | G/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 3 | 186853177 | missense variant | T/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 3 | 186841636 | upstream gene variant | A/G | snv | 0.15 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
6 | 0.851 | 0.200 | 3 | 186852664 | non coding transcript exon variant | G/A | snv | 8.8E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 3 | 186855400 | 3 prime UTR variant | C/T | snv | 0.95 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.160 | 3 | 186850996 | intron variant | A/T | snv | 0.17 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 3 | 186853158 | missense variant | G/A | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 |