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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
41 | 0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 | 0.060 | 0.667 | 6 | 1995 | 2000 | |||
|
16 | 0.732 | 0.400 | 8 | 19954222 | missense variant | G/A;C | snv | 1.9E-04 | 0.030 | 1.000 | 3 | 1998 | 2020 | ||||
|
9 | 0.807 | 0.160 | 8 | 19954279 | missense variant | C/T | snv | 4.0E-05 | 1.4E-05 | 0.030 | 1.000 | 3 | 2002 | 2007 | |||
|
6 | 0.827 | 0.120 | 8 | 19955900 | missense variant | C/G | snv | 1.1E-04 | 6.3E-05 | 0.030 | 1.000 | 3 | 2000 | 2016 | |||
|
6 | 0.827 | 0.120 | 8 | 19955896 | frameshift variant | CT/- | delins | 0.030 | 1.000 | 3 | 2000 | 2016 | |||||
|
2 | 1.000 | 0.080 | 8 | 19955901 | missense variant | T/G | snv | 1.2E-05 | 1.4E-05 | 0.020 | 1.000 | 2 | 2000 | 2018 | |||
|
3 | 0.925 | 0.120 | 8 | 19951811 | missense variant | G/A | snv | 1.7E-04 | 7.0E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.925 | 0.120 | 8 | 19962134 | missense variant | G/A | snv | 6.0E-05 | 2.1E-04 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
14 | 0.742 | 0.240 | 8 | 19948197 | missense variant | G/A;C | snv | 1.4E-02; 2.0E-05 | 0.010 | < 0.001 | 1 | 2000 | 2000 | ||||
|
2 | 1.000 | 0.080 | 8 | 19954131 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.040 | 8 | 19955870 | missense variant | G/A | snv | 1.2E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 |