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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.752 | 0.280 | 19 | 41970284 | missense variant | C/T | snv | 0.070 | 1.000 | 7 | 2013 | 2018 | |||||
|
84 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 0.030 | 1.000 | 3 | 2011 | 2017 | ||||
|
8 | 0.790 | 0.280 | 19 | 41967744 | missense variant | C/G;T | snv | 0.030 | 1.000 | 3 | 2014 | 2018 | |||||
|
17 | 0.752 | 0.320 | 19 | 41970405 | missense variant | C/A;G;T | snv | 0.030 | 1.000 | 3 | 2015 | 2016 | |||||
|
3 | 0.882 | 0.080 | 19 | 41970298 | missense variant | A/C;T | snv | 0.020 | 1.000 | 2 | 2013 | 2016 | |||||
|
12 | 0.776 | 0.280 | 19 | 41970540 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.851 | 0.160 | 1 | 42943291 | stop gained | C/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.080 | X | 30308764 | missense variant | G/C | snv | 2.3E-04 | 3.9E-04 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
2 | 0.925 | 0.080 | X | 30304718 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.827 | 0.160 | 19 | 41975629 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.080 | 19 | 41970536 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.120 | 19 | 41988511 | missense variant | G/A;C | snv | 8.0E-06; 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
60 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2012 | 2012 |