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 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.730 | 1.000 | 3 | 2016 | 2019 | |||||
|
25 | 0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
16 | 0.724 | 0.320 | 3 | 179203760 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
1 | 1.000 | 0.080 | 22 | 17108826 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.120 | 5 | 87376941 | stop gained | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 2 | 190975830 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.080 | 2 | 190983699 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.160 | 5 | 150132750 | missense variant | C/T | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.851 | 0.080 | 2 | 190995185 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
13 | 0.790 | 0.200 | 2 | 190995184 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.080 | 2 | 190998246 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 6 | 111559523 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
16 | 0.716 | 0.440 | 2 | 190986921 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 |