Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs128626254 | 0.925 | 0.160 | X | 31323625 | stop gained | G/A;T | snv | 1.1E-05 | 2 | ||
rs1556503937 | 1.000 | 0.120 | X | 31323639 | stop gained | C/T | snv | 1 | |||
rs1060502633 | 1.000 | 0.120 | X | 31478129 | stop gained | G/A | snv | 1 | |||
rs128627256 | 0.882 | 0.160 | X | 31478330 | stop gained | G/A | snv | 3 | |||
rs1556656456 | 1.000 | 0.120 | X | 31478359 | frameshift variant | -/C | delins | 1 | |||
rs1556656487 | 1.000 | 0.120 | X | 31478368 | frameshift variant | G/- | delins | 1 | |||
rs201361100 | 1.000 | 0.120 | X | 31478995 | stop gained | G/A;C | snv | 3.8E-05 | 1 | ||
rs398124074 | 0.925 | 0.160 | X | 31479043 | stop gained | G/A | snv | 2 | |||
rs1556656818 | 1.000 | 0.120 | X | 31479046 | frameshift variant | -/A | delins | 1 | |||
rs1556656847 | 1.000 | 0.120 | X | 31479072 | frameshift variant | G/- | delins | 1 | |||
rs1556665052 | 1.000 | 0.120 | X | 31496787 | splice donor variant | C/T | snv | 1 | |||
rs886039785 | 0.925 | 0.120 | X | 31496876 | stop gained | C/T | snv | 7 | |||
rs1060502619 | 1.000 | 0.120 | X | 31496944 | splice acceptor variant | CC/TT | mnv | 1 | |||
rs1556665303 | 1.000 | 0.120 | X | 31496946 | splice acceptor variant | T/C | snv | 1 | |||
rs1060502621 | 1.000 | 0.120 | X | 31627681 | stop gained | G/A | snv | 1 | |||
rs1556764880 | 1.000 | 0.120 | X | 31627778 | frameshift variant | CAAGAAACTTTTCCAGG/- | delins | 1 | |||
rs1556789913 | 0.925 | 0.160 | X | 31657989 | splice donor variant | C/T | snv | 2 | |||
rs878854621 | 1.000 | 0.120 | X | 31679466 | frameshift variant | T/- | del | 1 | |||
rs1556806356 | 1.000 | 0.120 | X | 31679588 | splice acceptor variant | T/C | snv | 1 | |||
rs1556880354 | 0.925 | 0.120 | X | 31774193 | splice acceptor variant | C/T | snv | 2 | |||
rs1556917057 | 1.000 | 0.120 | X | 31820016 | frameshift variant | T/- | delins | 1 | |||
rs1064792967 | 1.000 | 0.120 | X | 31820041 | frameshift variant | GGT/AAAC | delins | 1 | |||
rs1556962223 | 1.000 | 0.120 | X | 31875187 | splice donor variant | C/A | snv | 1 | |||
rs1556962271 | 0.925 | 0.120 | X | 31875197 | frameshift variant | -/AATG | delins | 2 | |||
rs398124040 | 0.925 | 0.160 | X | 31875300 | frameshift variant | T/-;TT | delins | 2 |