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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 0.732 | 0.400 | 8 | 19954222 | missense variant | G/A;C | snv | 1.9E-04 | 0.860 | 0.963 | 27 | 1990 | 2012 | ||||
|
1 | 1.000 | 0.080 | 8 | 19955876 | missense variant | T/A | snv | 0.810 | 1.000 | 22 | 1990 | 2012 | |||||
|
9 | 0.807 | 0.160 | 8 | 19954279 | missense variant | C/T | snv | 4.0E-05 | 1.4E-05 | 0.810 | 1.000 | 22 | 1990 | 2012 | |||
|
1 | 1.000 | 0.080 | 8 | 19955874 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.810 | 1.000 | 22 | 1990 | 2017 | |||
|
1 | 1.000 | 0.080 | 8 | 19954126 | missense variant | A/G | snv | 0.810 | 1.000 | 22 | 1990 | 2012 | |||||
|
2 | 0.925 | 0.120 | 8 | 19955894 | missense variant | G/A | snv | 1.6E-05 | 1.4E-05 | 0.810 | 1.000 | 22 | 1990 | 2012 | |||
|
1 | 1.000 | 0.080 | 8 | 19954271 | missense variant | C/G | snv | 4.0E-06 | 0.810 | 1.000 | 21 | 1990 | 2012 | ||||
|
1 | 1.000 | 0.080 | 8 | 19951856 | missense variant | T/C | snv | 7.0E-06 | 0.810 | 1.000 | 21 | 1990 | 2012 | ||||
|
1 | 1.000 | 0.080 | 8 | 19954174 | missense variant | C/G;T | snv | 4.0E-06 | 0.810 | 1.000 | 2 | 1993 | 2012 | ||||
|
1 | 1.000 | 0.080 | 8 | 19954199 | missense variant | C/G;T | snv | 1.2E-05 | 0.810 | 1.000 | 2 | 1993 | 2012 | ||||
|
4 | 0.851 | 0.120 | 8 | 19955863 | missense variant | C/G;T | snv | 1.5E-04 | 0.810 | 1.000 | 2 | 2000 | 2012 | ||||
|
1 | 1.000 | 0.080 | 8 | 19954240 | missense variant | T/C | snv | 1.6E-05 | 4.2E-05 | 0.800 | 1.000 | 29 | 1990 | 2016 | |||
|
1 | 1.000 | 0.080 | 8 | 19954185 | missense variant | G/A | snv | 7.0E-06 | 0.800 | 1.000 | 21 | 1990 | 2012 | ||||
|
1 | 1.000 | 0.080 | 8 | 19953386 | missense variant | G/A | snv | 4.0E-06 | 0.800 | 1.000 | 21 | 1990 | 2012 | ||||
|
2 | 0.925 | 0.080 | 8 | 19959322 | missense variant | G/A | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.120 | 8 | 19951825 | missense variant | A/C | snv | 4.0E-06 | 7.0E-06 | 0.800 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.080 | 8 | 19954243 | missense variant | G/A | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 8 | 19955873 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.800 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.080 | 8 | 19960935 | missense variant | C/G | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 8 | 19962126 | missense variant | G/A | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 8 | 19954333 | missense variant | T/C | snv | 2.0E-05 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.827 | 0.120 | 8 | 19955900 | missense variant | C/G | snv | 1.1E-04 | 6.3E-05 | 0.720 | 1.000 | 22 | 1990 | 2016 | |||
|
1 | 1.000 | 0.080 | 8 | 19954258 | missense variant | T/A;C | snv | 3.6E-05 | 0.710 | 1.000 | 21 | 1990 | 2019 | ||||
|
2 | 1.000 | 0.080 | 8 | 19955901 | missense variant | T/G | snv | 1.2E-05 | 1.4E-05 | 0.710 | 1.000 | 1 | 2000 | 2000 | |||
|
1 | 1.000 | 0.080 | 8 | 19956048 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 1.000 | 20 | 1990 | 2005 |