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 | 16 | 173598 | stop lost | T/A;C;G | snv | 5.6E-05 | 0.700 | 1.000 | 7 | 1971 | 2010 | ||||
|
1 | 1.000 | 0.080 | 16 | 172914 | start lost | T/C | snv | 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 | |||||||
|
10 | 0.763 | 0.080 | 11 | 5226924 | splice region variant | A/G;T | snv | 1.2E-04 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 11 | 5225662 | frameshift variant | A/- | del | 0.010 | 1.000 | 1 | 1992 | 1992 | |||||
|
1 | 1.000 | 0.080 | 16 | 173003 | frameshift variant | AG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 173694 | 3 prime UTR variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
10 | 0.763 | 0.080 | 11 | 5226576 | splice donor variant | C/A;G;T | snv | 4.0E-05 | 0.700 | 0 | |||||||
|
10 | 0.763 | 0.080 | 11 | 5226929 | splice donor variant | C/A;T | snv | 7.2E-05; 9.5E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 16 | 173005 | splice donor variant | TGAGG/- | delins | 0.700 | 0 | ||||||||
|
12 | 0.752 | 0.080 | 11 | 5227158 | 5 prime UTR variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
12 | 0.752 | 0.080 | 11 | 5227159 | 5 prime UTR variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
14 | 0.724 | 0.280 | 11 | 5227100 | 5 prime UTR variant | T/C | snv | 8.9E-04 | 0.700 | 0 | |||||||
|
11 | 0.752 | 0.080 | 11 | 5226820 | non coding transcript exon variant | C/T | snv | 1.6E-04 | 9.1E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 16 | 177311 | missense variant | T/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1990 | 1990 | ||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
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 | 177056 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 1979 | 1979 | |||||
|
4 | 0.882 | 0.080 | 11 | 5225662 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1992 | 1992 | ||||
|
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 | |||
|
2 | 0.925 | 0.080 | 11 | 5226967 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 1992 | 1992 | |||||
|
6 | 0.851 | 0.200 | 1 | 100731231 | missense variant | G/A;C | snv | 4.0E-06; 9.9E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
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 | 177040 | missense variant | C/A;G | snv | 2.9E-05 | 0.700 | 0 |