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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 22 | 35386751 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
16 | 0.742 | 0.320 | 12 | 21176804 | missense variant | A/G;T | snv | 0.47 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
1 | 1.000 | 0.080 | 1 | 161230697 | 3 prime UTR variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.851 | 0.120 | 12 | 21176879 | missense variant | C/A;T | snv | 0.11; 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.120 | 11 | 5226684 | missense variant | C/G;T | snv | 9.4E-04 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
3 | 0.882 | 0.120 | 2 | 233693633 | missense variant | C/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.160 | X | 154532257 | missense variant | C/T | snv | 5.5E-04 | 1.1E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
22 | 0.701 | 0.440 | 2 | 233760498 | missense variant | G/A | snv | 2.2E-02 | 9.2E-03 | 0.100 | 1.000 | 10 | 2007 | 2019 | |||
|
1 | 1.000 | 0.080 | 1 | 161232815 | synonymous variant | G/A | snv | 0.35 | 0.29 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.120 | 7 | 43771165 | missense variant | G/A | snv | 0.80 | 0.83 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 1.000 | 0.080 | 2 | 233772898 | 3 prime UTR variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
5 | 0.827 | 0.160 | 2 | 233719115 | missense variant | G/C | snv | 2.4E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
45 | 0.633 | 0.480 | 12 | 21178615 | missense variant | T/C | snv | 0.13 | 0.12 | 0.020 | 1.000 | 2 | 2014 | 2019 | |||
|
1 | 1.000 | 0.080 | 1 | 161242119 | upstream gene variant | T/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 1.000 | 0.080 | 2 | 233772770 | 3 prime UTR variant | T/C | snv | 0.74 | 0.010 | 1.000 | 1 | 2018 | 2018 |