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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.800 | 0.923 | 13 | 1999 | 2020 | ||||
|
24 | 0.672 | 0.440 | 12 | 25227342 | missense variant | T/A;C;G | snv | 0.710 | 1.000 | 1 | 2017 | 2017 | |||||
|
9 | 0.807 | 0.320 | 12 | 25225628 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.240 | 12 | 25225713 | missense variant | T/A;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
32 | 0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv | 0.100 | 1.000 | 10 | 2004 | 2019 | |||||
|
63 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.040 | 0.750 | 4 | 2015 | 2019 | |||||
|
29 | 0.662 | 0.320 | 12 | 25207290 | 3 prime UTR variant | A/C | snv | 6.2E-02 | 0.030 | 1.000 | 3 | 2014 | 2017 | ||||
|
24 | 0.677 | 0.360 | 12 | 25209618 | 3 prime UTR variant | A/C | snv | 0.46 | 0.030 | 1.000 | 3 | 2014 | 2019 | ||||
|
2 | 1.000 | 0.080 | 12 | 25206418 | 3 prime UTR variant | G/A | snv | 0.49 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
17 | 0.732 | 0.240 | 12 | 25227343 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.120 | 12 | 25245346 | synonymous variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 12 | 25208712 | 3 prime UTR variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.080 | 12 | 25206009 | 3 prime UTR variant | T/C | snv | 0.49 | 0.010 | 1.000 | 1 | 2020 | 2020 |