Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1060503288 | 1.000 | 0.120 | 5 | 112839999 | stop gained | C/G;T | snv | 7.0E-06 | 1 | ||
rs1064795228 | 1.000 | 0.120 | 5 | 112839048 | stop gained | C/G;T | snv | 1 | |||
rs1254176854 | 1.000 | 0.120 | 5 | 112838544 | stop gained | G/A;T | snv | 1 | |||
rs1305971005 | 1.000 | 0.120 | 5 | 112843551 | frameshift variant | A/- | delins | 1 | |||
rs139196838 | 1.000 | 0.120 | 5 | 112767263 | missense variant | C/A;T | snv | 4.0E-06; 3.9E-04 | 1 | ||
rs1392778905 | 1.000 | 0.120 | 5 | 112840254 | stop gained | G/A;T | snv | 1 | |||
rs1414406816 | 1.000 | 0.120 | 5 | 112767293 | stop gained | G/A;T | snv | 1 | |||
rs141582813 | 1.000 | 0.120 | 5 | 112819153 | missense variant | G/A;C | snv | 1.2E-05; 4.0E-06 | 1 | ||
rs1462312032 | 1.000 | 0.120 | 5 | 112838784 | stop gained | G/T | snv | 1 | |||
rs1554069549 | 1.000 | 0.120 | 5 | 112766393 | stop gained | T/G | snv | 1 | |||
rs1554069570 | 1.000 | 0.120 | 5 | 112766411 | splice donor variant | G/A | snv | 1 | |||
rs1554069805 | 1.000 | 0.120 | 5 | 112767313 | frameshift variant | GGTTCATTTCCAAG/- | delins | 1 | |||
rs1554071521 | 1.000 | 0.120 | 5 | 112775661 | frameshift variant | A/- | delins | 1 | |||
rs1554071555 | 1.000 | 0.120 | 5 | 112775677 | frameshift variant | -/T | delins | 1 | |||
rs1554071590 | 1.000 | 0.120 | 5 | 112775698 | frameshift variant | TCTC/- | del | 1 | |||
rs1554071602 | 1.000 | 0.120 | 5 | 112775705 | frameshift variant | A/- | delins | 1 | |||
rs1554072560 | 1.000 | 0.120 | 5 | 112780797 | stop gained | T/A | snv | 1 | |||
rs1554072616 | 1.000 | 0.120 | 5 | 112780850 | frameshift variant | -/T | delins | 1 | |||
rs1554074762 | 1.000 | 0.120 | 5 | 112792485 | frameshift variant | C/TT | delins | 1 | |||
rs1554074786 | 1.000 | 0.120 | 5 | 112792506 | stop gained | C/T | snv | 1 | |||
rs1554076129 | 1.000 | 0.120 | 5 | 112801278 | splice acceptor variant | G/C | snv | 1 | |||
rs1554079128 | 1.000 | 0.120 | 5 | 112815488 | splice region variant | T/G | snv | 1 | |||
rs1554079988 | 1.000 | 0.120 | 5 | 112819079 | frameshift variant | TCTGGATGTCTTCCTCTCCTCATCCAGCTTTTACATGGCAATGACAAAGACTCTGTATTGTTGGGAAATTCCCGGGGCAGTAAAGAGGCTCGGG/- | delins | 1 | |||
rs1554080070 | 1.000 | 0.120 | 5 | 112819244 | frameshift variant | C/- | delins | 1 | |||
rs1554080695 | 1.000 | 0.120 | 5 | 112821924 | frameshift variant | -/C | delins | 1 |