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 | 1 | 226885669 | missense variant | G/A | snv | 2.4E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 1996 | 1996 | |||
|
19 | 0.701 | 0.240 | 1 | 226885603 | missense variant | A/T | snv | 0.100 | 1.000 | 13 | 1997 | 2018 | |||||
|
5 | 0.851 | 0.160 | 1 | 226888979 | missense variant | G/A | snv | 0.030 | 1.000 | 3 | 2000 | 2012 | |||||
|
10 | 0.807 | 0.120 | 1 | 226888977 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
3 | 0.882 | 0.080 | 1 | 226883748 | missense variant | G/A | snv | 8.6E-03 | 1.4E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
6 | 0.807 | 0.160 | 1 | 226883774 | missense variant | C/T | snv | 3.6E-03 | 3.4E-03 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
5 | 0.827 | 0.080 | 1 | 226885546 | missense variant | C/G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 1 | 226895849 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 1 | 226888902 | missense variant | G/A;T | snv | 4.0E-06; 2.4E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.080 | 1 | 226885602 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.851 | 0.120 | 1 | 226888097 | missense variant | C/A | snv | 1.9E-04 | 4.2E-05 | 0.030 | 1.000 | 3 | 2015 | 2019 | |||
|
2 | 0.925 | 0.080 | 1 | 226895498 | missense variant | C/G;T | snv | 4.0E-06; 2.8E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 |