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 | 0.120 | 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 | 19954236 | missense variant | A/C | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 8 | 19954126 | missense variant | A/G | snv | 0.810 | 1.000 | 22 | 1990 | 2012 | |||||
|
41 | 0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 | 0.030 | 1.000 | 3 | 1999 | 2019 | |||
|
17 | 0.716 | 0.400 | 1 | 173206693 | intron variant | A/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.882 | 0.120 | 8 | 19960948 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 8 | 19956052 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 19951819 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
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 | 19954271 | missense variant | C/G | snv | 4.0E-06 | 0.810 | 1.000 | 21 | 1990 | 2012 | ||||
|
1 | 1.000 | 0.080 | 8 | 19956040 | missense variant | C/G | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 20 | 1990 | 2005 | |||
|
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 | 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 | 19951916 | stop gained | C/G;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 0 | |||||||
|
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 | 19959335 | missense variant | C/T | snv | 2.0E-05 | 0.700 | 1.000 | 20 | 1990 | 2005 | ||||
|
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 | |||
|
12 | 0.752 | 0.320 | 1 | 1212042 | synonymous variant | C/T | snv | 0.37 | 0.31 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
6 | 0.827 | 0.120 | 8 | 19955896 | frameshift variant | CT/- | delins | 0.020 | 1.000 | 2 | 2000 | 2016 | |||||
|
2 | 1.000 | 0.080 | 8 | 19954320 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
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 | |||
|
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 | 19954185 | missense variant | G/A | snv | 7.0E-06 | 0.800 | 1.000 | 21 | 1990 | 2012 |