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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
63 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.800 | 1.000 | 19 | 2002 | 2019 | |||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.790 | 1.000 | 26 | 2002 | 2019 | ||||
|
27 | 0.672 | 0.400 | 12 | 25227341 | missense variant | T/A;G | snv | 4.0E-06 | 0.720 | 1.000 | 5 | 2002 | 2018 | ||||
|
14 | 0.742 | 0.320 | 12 | 25245348 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 4 | 2002 | 2013 | |||||
|
24 | 0.672 | 0.440 | 12 | 25227342 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 4 | 2002 | 2008 | |||||
|
3 | 0.882 | 0.280 | 12 | 25227345 | missense variant | C/A | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2006 | 2013 | ||||
|
32 | 0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 3 | 2002 | 2008 | |||||
|
17 | 0.732 | 0.240 | 12 | 25227343 | missense variant | G/C;T | snv | 0.700 | 1.000 | 3 | 2002 | 2009 | |||||
|
2 | 0.925 | 0.120 | 12 | 25245346 | synonymous variant | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 12 | 25227234 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
29 | 0.662 | 0.320 | 12 | 25207290 | 3 prime UTR variant | A/C | snv | 6.2E-02 | 0.020 | 1.000 | 2 | 2011 | 2015 | ||||
|
1 | 1.000 | 0.080 | 12 | 25244659 | intron variant | A/C | snv | 2.7E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 |