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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.807 | 0.320 | X | 77717155 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
12 | 0.752 | 0.280 | 2 | 60493111 | intron variant | C/T | snv | 0.65 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.827 | 0.120 | 2 | 60490908 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
11 | 0.790 | 0.400 | 2 | 60493816 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.080 | 16 | 177311 | missense variant | T/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1990 | 1990 | ||||
|
2 | 0.925 | 0.080 | 16 | 177056 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 1979 | 1979 | |||||
|
3 | 0.925 | 0.080 | 16 | 176759 | missense variant | T/A;C;Y | snv | 1.7E-04 | 1.4E-05 | 0.010 | 1.000 | 1 | 1984 | 1984 | |||
|
1 | 1.000 | 0.080 | 16 | 177040 | missense variant | C/A;G | snv | 2.9E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 16 | 173598 | stop lost | T/A;C;G | snv | 5.6E-05 | 0.700 | 1.000 | 7 | 1971 | 2010 | ||||
|
2 | 0.925 | 0.080 | 16 | 172955 | missense variant | T/A;C | snv | 0.010 | 1.000 | 1 | 1984 | 1984 | |||||
|
2 | 0.925 | 0.080 | 16 | 173246 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 1979 | 1979 | |||||
|
2 | 0.925 | 0.080 | 16 | 173500 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 1990 | 1990 | |||||
|
1 | 1.000 | 0.080 | 16 | 173003 | frameshift variant | AG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 173236 | missense variant | C/A;G;R | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 172914 | start lost | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 172982 | stop gained | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 173520 | stop gained | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 16 | 173548 | missense variant | T/A;C;G | snv | 5.6E-05; 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 16 | 173005 | splice donor variant | TGAGG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 173694 | 3 prime UTR variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.080 | 11 | 5225662 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1992 | 1992 | ||||
|
2 | 0.925 | 0.080 | 11 | 5226967 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 1992 | 1992 | |||||
|
2 | 0.925 | 0.080 | 11 | 5225662 | frameshift variant | A/- | del | 0.010 | 1.000 | 1 | 1992 | 1992 | |||||
|
11 | 0.752 | 0.080 | 11 | 5226774 | stop gained | G/A;C;T | snv | 3.3E-04 | 0.700 | 0 | |||||||
|
11 | 0.752 | 0.080 | 11 | 5226925 | splice region variant | C/A;G;T | snv | 4.0E-06; 5.9E-04; 4.0E-06 | 0.700 | 0 |